Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011220	HP:0011220	Prominent forehead	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0011220	HP:0011220	Prominent forehead	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.	2
HP:0011220	HP:0011220	Prominent forehead	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent	9
HP:0011220	HP:0011220	Prominent forehead	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	.	9
HP:0011220	HP:0011220	Prominent forehead	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0011220	HP:0011220	Prominent forehead	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0011220	HP:0011220	Prominent forehead	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0011220	HP:0011220	Prominent forehead	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0011220	HP:0011220	Prominent forehead	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0011220	HP:0011220	Prominent forehead	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0011220	HP:0011220	Prominent forehead	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0011220	HP:0011220	Prominent forehead	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0011220	HP:0011220	Prominent forehead	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0011220	HP:0011220	Prominent forehead	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0011220	HP:0011220	Prominent forehead	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0011220	HP:0011220	Prominent forehead	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0011220	HP:0011220	Prominent forehead	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional	166
HP:0011220	HP:0011220	Prominent forehead	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0011220	HP:0011220	Prominent forehead	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0011220	HP:0011220	Prominent forehead	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0011220	HP:0011220	Prominent forehead	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0011220	HP:0011220	Prominent forehead	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0011220	HP:0011220	Prominent forehead	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0011220	HP:0011220	Prominent forehead	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0011220	HP:0011220	Prominent forehead	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:0011220	HP:0011220	Prominent forehead	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0011220	HP:0011220	Prominent forehead	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011220	HP:0011220	Prominent forehead	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0011220	HP:0011220	Prominent forehead	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0011220	HP:0011220	Prominent forehead	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0011220	HP:0011220	Prominent forehead	0	BRWD3 CL E G H	254065	17342	OMIM:300659	MENTAL RETARDATION, X-LINKED 93; MRX93		104
HP:0011220	HP:0011220	Prominent forehead	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0011220	HP:0011220	Prominent forehead	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0011220	HP:0011220	Prominent forehead	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0011220	HP:0011220	Prominent forehead	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0011220	HP:0011220	Prominent forehead	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0011220	HP:0011220	Prominent forehead	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0011220	HP:0011220	Prominent forehead	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011220	HP:0011220	Prominent forehead	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0011220	HP:0011220	Prominent forehead	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0011220	HP:0011220	Prominent forehead	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0011220	HP:0011220	Prominent forehead	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	114
HP:0011220	HP:0011220	Prominent forehead	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0011220	HP:0011220	Prominent forehead	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0011220	HP:0011220	Prominent forehead	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0011220	HP:0011220	Prominent forehead	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:0011220	HP:0011220	Prominent forehead	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0011220	HP:0011220	Prominent forehead	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011220	HP:0011220	Prominent forehead	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011220	HP:0011220	Prominent forehead	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0011220	HP:0011220	Prominent forehead	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0011220	HP:0011220	Prominent forehead	0	COL27A1 CL E G H	85301	22986	OMIM:615155	Steel syndrome	.	1
HP:0011220	HP:0011220	Prominent forehead	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0011220	HP:0011220	Prominent forehead	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0011220	HP:0011220	Prominent forehead	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011220	HP:0011220	Prominent forehead	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011220	HP:0011220	Prominent forehead	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0011220	HP:0011220	Prominent forehead	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0011220	HP:0011220	Prominent forehead	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:0011220	HP:0011220	Prominent forehead	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent	1
HP:0011220	HP:0011220	Prominent forehead	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0011220	HP:0011220	Prominent forehead	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011220	HP:0011220	Prominent forehead	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040281 - Very frequent	3
HP:0011220	HP:0011220	Prominent forehead	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0011220	HP:0011220	Prominent forehead	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0011220	HP:0011220	Prominent forehead	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011220	HP:0011220	Prominent forehead	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0011220	HP:0011220	Prominent forehead	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0011220	HP:0011220	Prominent forehead	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0011220	HP:0011220	Prominent forehead	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.	427
HP:0011220	HP:0011220	Prominent forehead	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011220	HP:0011220	Prominent forehead	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011220	HP:0011220	Prominent forehead	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	86
HP:0011220	HP:0011220	Prominent forehead	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	56
HP:0011220	HP:0011220	Prominent forehead	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0011220	HP:0011220	Prominent forehead	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0011220	HP:0011220	Prominent forehead	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0011220	HP:0011220	Prominent forehead	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011220	HP:0011220	Prominent forehead	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011220	HP:0011220	Prominent forehead	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0011220	HP:0011220	Prominent forehead	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0011220	HP:0011220	Prominent forehead	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional	102
HP:0011220	HP:0011220	Prominent forehead	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0011220	HP:0011220	Prominent forehead	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0011220	HP:0011220	Prominent forehead	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0011220	HP:0011220	Prominent forehead	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0011220	HP:0011220	Prominent forehead	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	.
HP:0011220	HP:0011220	Prominent forehead	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0011220	HP:0011220	Prominent forehead	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0011220	HP:0011220	Prominent forehead	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011220	HP:0011220	Prominent forehead	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0011220	HP:0011220	Prominent forehead	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0011220	HP:0011220	Prominent forehead	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.	493
HP:0011220	HP:0011220	Prominent forehead	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0011220	HP:0011220	Prominent forehead	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0011220	HP:0011220	Prominent forehead	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0011220	HP:0011220	Prominent forehead	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0011220	HP:0011220	Prominent forehead	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	63
HP:0011220	HP:0011220	Prominent forehead	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040281 - Very frequent	184
HP:0011220	HP:0011220	Prominent forehead	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0011220	HP:0011220	Prominent forehead	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent	43
HP:0011220	HP:0011220	Prominent forehead	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0011220	HP:0011220	Prominent forehead	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011220	HP:0011220	Prominent forehead	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011220	HP:0011220	Prominent forehead	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0011220	HP:0011220	Prominent forehead	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0011220	HP:0011220	Prominent forehead	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0011220	HP:0011220	Prominent forehead	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0011220	HP:0011220	Prominent forehead	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0011220	HP:0011220	Prominent forehead	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0011220	HP:0011220	Prominent forehead	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0011220	HP:0011220	Prominent forehead	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0011220	HP:0011220	Prominent forehead	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0011220	HP:0011220	Prominent forehead	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	4
HP:0011220	HP:0011220	Prominent forehead	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011220	HP:0011220	Prominent forehead	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0011220	HP:0011220	Prominent forehead	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0011220	HP:0011220	Prominent forehead	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0011220	HP:0011220	Prominent forehead	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent	16
HP:0011220	HP:0011220	Prominent forehead	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0011220	HP:0011220	Prominent forehead	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0011220	HP:0011220	Prominent forehead	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	2
HP:0011220	HP:0011220	Prominent forehead	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0011220	HP:0011220	Prominent forehead	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:0011220	HP:0011220	Prominent forehead	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0011220	HP:0011220	Prominent forehead	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0011220	HP:0011220	Prominent forehead	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly	.	2
HP:0011220	HP:0011220	Prominent forehead	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040283 - Occasional	91
HP:0011220	HP:0011220	Prominent forehead	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0011220	HP:0011220	Prominent forehead	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0011220	HP:0011220	Prominent forehead	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	9
HP:0011220	HP:0011220	Prominent forehead	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	9
HP:0011220	HP:0011220	Prominent forehead	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011220	HP:0011220	Prominent forehead	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0011220	HP:0011220	Prominent forehead	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0011220	HP:0011220	Prominent forehead	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0011220	HP:0011220	Prominent forehead	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0011220	HP:0011220	Prominent forehead	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0011220	HP:0011220	Prominent forehead	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0011220	HP:0011220	Prominent forehead	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	1
HP:0011220	HP:0011220	Prominent forehead	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0011220	HP:0011220	Prominent forehead	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011220	HP:0011220	Prominent forehead	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0011220	HP:0011220	Prominent forehead	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0011220	HP:0011220	Prominent forehead	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0011220	HP:0011220	Prominent forehead	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0011220	HP:0011220	Prominent forehead	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	HP:0040283 - Occasional	46
HP:0011220	HP:0011220	Prominent forehead	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0011220	HP:0011220	Prominent forehead	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0011220	HP:0011220	Prominent forehead	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0011220	HP:0011220	Prominent forehead	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0011220	HP:0011220	Prominent forehead	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0011220	HP:0011220	Prominent forehead	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly	.	70
HP:0011220	HP:0011220	Prominent forehead	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0011220	HP:0011220	Prominent forehead	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0011220	HP:0011220	Prominent forehead	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome	.	124
HP:0011220	HP:0011220	Prominent forehead	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0011220	HP:0011220	Prominent forehead	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	.	5
HP:0011220	HP:0011220	Prominent forehead	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0011220	HP:0011220	Prominent forehead	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0011220	HP:0011220	Prominent forehead	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0011220	HP:0011220	Prominent forehead	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0011220	HP:0011220	Prominent forehead	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0011220	HP:0011220	Prominent forehead	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0011220	HP:0011220	Prominent forehead	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0011220	HP:0011220	Prominent forehead	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:0011220	HP:0011220	Prominent forehead	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent	1
HP:0011220	HP:0011220	Prominent forehead	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0011220	HP:0011220	Prominent forehead	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0011220	HP:0011220	Prominent forehead	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040281 - Very frequent	57
HP:0011220	HP:0011220	Prominent forehead	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0011220	HP:0011220	Prominent forehead	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0011220	HP:0011220	Prominent forehead	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional	68
HP:0011220	HP:0011220	Prominent forehead	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0011220	HP:0011220	Prominent forehead	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0011220	HP:0011220	Prominent forehead	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0011220	HP:0011220	Prominent forehead	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0011220	HP:0011220	Prominent forehead	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0011220	HP:0011220	Prominent forehead	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0011220	HP:0011220	Prominent forehead	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0011220	HP:0011220	Prominent forehead	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0011220	HP:0011220	Prominent forehead	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0011220	HP:0011220	Prominent forehead	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0011220	HP:0011220	Prominent forehead	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0011220	HP:0011220	Prominent forehead	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0011220	HP:0011220	Prominent forehead	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0011220	HP:0011220	Prominent forehead	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0011220	HP:0011220	Prominent forehead	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0011220	HP:0011220	Prominent forehead	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0011220	HP:0011220	Prominent forehead	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0011220	HP:0011220	Prominent forehead	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0011220	HP:0011220	Prominent forehead	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0011220	HP:0011220	Prominent forehead	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0011220	HP:0011220	Prominent forehead	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0011220	HP:0011220	Prominent forehead	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011220	HP:0011220	Prominent forehead	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0011220	HP:0011220	Prominent forehead	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0011220	HP:0011220	Prominent forehead	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0011220	HP:0011220	Prominent forehead	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040283 - Occasional	51
HP:0011220	HP:0011220	Prominent forehead	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0011220	HP:0011220	Prominent forehead	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0011220	HP:0011220	Prominent forehead	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0011220	HP:0011220	Prominent forehead	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	3
HP:0011220	HP:0011220	Prominent forehead	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0011220	HP:0011220	Prominent forehead	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0011220	HP:0011220	Prominent forehead	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0011220	HP:0011220	Prominent forehead	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0011220	HP:0011220	Prominent forehead	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0011220	HP:0011220	Prominent forehead	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0011220	HP:0011220	Prominent forehead	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011220	HP:0011220	Prominent forehead	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0011220	HP:0011220	Prominent forehead	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.	7
HP:0011220	HP:0011220	Prominent forehead	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0011220	HP:0011220	Prominent forehead	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0011220	HP:0011220	Prominent forehead	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0011220	HP:0011220	Prominent forehead	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0011220	HP:0011220	Prominent forehead	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0011220	HP:0011220	Prominent forehead	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0011220	HP:0011220	Prominent forehead	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0011220	HP:0011220	Prominent forehead	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0011220	HP:0011220	Prominent forehead	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0011220	HP:0011220	Prominent forehead	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0011220	HP:0011220	Prominent forehead	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB	.	53
HP:0011220	HP:0011220	Prominent forehead	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0011220	HP:0011220	Prominent forehead	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011220	HP:0011220	Prominent forehead	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0011220	HP:0011220	Prominent forehead	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0011220	HP:0011220	Prominent forehead	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0011220	HP:0011220	Prominent forehead	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011220	HP:0011220	Prominent forehead	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0011220	HP:0011220	Prominent forehead	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent	34
HP:0011220	HP:0011220	Prominent forehead	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0011220	HP:0011220	Prominent forehead	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0011220	HP:0011220	Prominent forehead	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0011220	HP:0011220	Prominent forehead	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0011220	HP:0011220	Prominent forehead	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0011220	HP:0011220	Prominent forehead	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0011220	HP:0011220	Prominent forehead	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011220	HP:0011220	Prominent forehead	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0011220	HP:0011220	Prominent forehead	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0011220	HP:0011220	Prominent forehead	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0011220	HP:0011220	Prominent forehead	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0011220	HP:0011220	Prominent forehead	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0011220	HP:0011220	Prominent forehead	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011220	HP:0011220	Prominent forehead	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0011220	HP:0011220	Prominent forehead	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0011220	HP:0011220	Prominent forehead	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0011220	HP:0011220	Prominent forehead	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0011220	HP:0011220	Prominent forehead	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040281 - Very frequent	15
HP:0011220	HP:0011220	Prominent forehead	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0011220	HP:0011220	Prominent forehead	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0011220	HP:0011220	Prominent forehead	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0011220	HP:0011220	Prominent forehead	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0011220	HP:0011220	Prominent forehead	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0011220	HP:0011220	Prominent forehead	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0011220	HP:0011220	Prominent forehead	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0011220	HP:0011220	Prominent forehead	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0011220	HP:0011220	Prominent forehead	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0011220	HP:0011220	Prominent forehead	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0011220	HP:0011220	Prominent forehead	0	STAT5B CL E G H	6777	11367	OMIM:245590	GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY		12
HP:0011220	HP:0011220	Prominent forehead	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0011220	HP:0011220	Prominent forehead	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0011220	HP:0011220	Prominent forehead	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0011220	HP:0011220	Prominent forehead	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0011220	HP:0011220	Prominent forehead	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011220	HP:0011220	Prominent forehead	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0011220	HP:0011220	Prominent forehead	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0011220	HP:0011220	Prominent forehead	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011220	HP:0011220	Prominent forehead	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0011220	HP:0011220	Prominent forehead	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0011220	HP:0011220	Prominent forehead	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional
HP:0011220	HP:0011220	Prominent forehead	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0011220	HP:0011220	Prominent forehead	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0011220	HP:0011220	Prominent forehead	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040284 - Very rare	26
HP:0011220	HP:0011220	Prominent forehead	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1		18
HP:0011220	HP:0011220	Prominent forehead	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0011220	HP:0011220	Prominent forehead	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0011220	HP:0011220	Prominent forehead	0	UPF3B CL E G H	65109	20439	OMIM:300676	MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		33
HP:0011220	HP:0011220	Prominent forehead	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0011220	HP:0011220	Prominent forehead	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0011220	HP:0011220	Prominent forehead	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0011220	HP:0011220	Prominent forehead	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0011220	HP:0011220	Prominent forehead	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0011220	HP:0011220	Prominent forehead	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011220	HP:0011220	Prominent forehead	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0011220	HP:0011220	Prominent forehead	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0011220	HP:0011220	Prominent forehead	0	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:0011220	HP:0011220	Prominent forehead	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0011220	HP:0011220	Prominent forehead	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0011220	HP:0011220	Prominent forehead	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent	16
HP:0011220	HP:0011220	Prominent forehead	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0011220	HP:0011220	Prominent forehead	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0011220	HP:0011220	Prominent forehead	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011220	HP:0011220	Prominent forehead	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0011220	HP:0011220	Prominent forehead	0	ZNF711 CL E G H	7552	13128	OMIM:300803	MENTAL RETARDATION, X-LINKED 97; MRX97		34
HP:0011220	HP:0011220	Prominent forehead	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011220	HP:0011220	Prominent forehead	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5