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:0000340	HP:0000340	Sloping forehead	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000340	HP:0000340	Sloping forehead	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000340	HP:0000340	Sloping forehead	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0000340	HP:0000340	Sloping forehead	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.	3
HP:0000340	HP:0000340	Sloping forehead	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000340	HP:0000340	Sloping forehead	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0000340	HP:0000340	Sloping forehead	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0000340	HP:0000340	Sloping forehead	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0000340	HP:0000340	Sloping forehead	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000340	HP:0000340	Sloping forehead	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000340	HP:0000340	Sloping forehead	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000340	HP:0000340	Sloping forehead	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000340	HP:0000340	Sloping forehead	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000340	HP:0000340	Sloping forehead	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000340	HP:0000340	Sloping forehead	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000340	HP:0000340	Sloping forehead	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0000340	HP:0000340	Sloping forehead	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0000340	HP:0000340	Sloping forehead	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0000340	HP:0000340	Sloping forehead	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000340	HP:0000340	Sloping forehead	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000340	HP:0000340	Sloping forehead	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0000340	HP:0000340	Sloping forehead	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000340	HP:0000340	Sloping forehead	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0000340	HP:0000340	Sloping forehead	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0000340	HP:0000340	Sloping forehead	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.	181
HP:0000340	HP:0000340	Sloping forehead	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0000340	HP:0000340	Sloping forehead	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.	6
HP:0000340	HP:0000340	Sloping forehead	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0000340	HP:0000340	Sloping forehead	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0000340	HP:0000340	Sloping forehead	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0000340	HP:0000340	Sloping forehead	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0000340	HP:0000340	Sloping forehead	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.	38
HP:0000340	HP:0000340	Sloping forehead	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0000340	HP:0000340	Sloping forehead	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5		146
HP:0000340	HP:0000340	Sloping forehead	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000340	HP:0000340	Sloping forehead	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0000340	HP:0000340	Sloping forehead	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0000340	HP:0000340	Sloping forehead	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0000340	HP:0000340	Sloping forehead	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0000340	HP:0000340	Sloping forehead	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.	2
HP:0000340	HP:0000340	Sloping forehead	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0000340	HP:0000340	Sloping forehead	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0000340	HP:0000340	Sloping forehead	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0000340	HP:0000340	Sloping forehead	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000340	HP:0000340	Sloping forehead	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000340	HP:0000340	Sloping forehead	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000340	HP:0000340	Sloping forehead	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.	159
HP:0000340	HP:0000340	Sloping forehead	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0000340	HP:0000340	Sloping forehead	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000340	HP:0000340	Sloping forehead	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0000340	HP:0000340	Sloping forehead	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0000340	HP:0000340	Sloping forehead	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent	2
HP:0000340	HP:0000340	Sloping forehead	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000340	HP:0000340	Sloping forehead	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.	199
HP:0000340	HP:0000340	Sloping forehead	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0000340	HP:0000340	Sloping forehead	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000340	HP:0000340	Sloping forehead	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000340	HP:0000340	Sloping forehead	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000340	HP:0000340	Sloping forehead	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000340	HP:0000340	Sloping forehead	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000340	HP:0000340	Sloping forehead	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000340	HP:0000340	Sloping forehead	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000340	HP:0000340	Sloping forehead	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000340	HP:0000340	Sloping forehead	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000340	HP:0000340	Sloping forehead	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000340	HP:0000340	Sloping forehead	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000340	HP:0000340	Sloping forehead	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0000340	HP:0000340	Sloping forehead	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000340	HP:0000340	Sloping forehead	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000340	HP:0000340	Sloping forehead	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0000340	HP:0000340	Sloping forehead	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0000340	HP:0000340	Sloping forehead	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040282 - Frequent
HP:0000340	HP:0000340	Sloping forehead	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000340	HP:0000340	Sloping forehead	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000340	HP:0000340	Sloping forehead	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000340	HP:0000340	Sloping forehead	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000340	HP:0000340	Sloping forehead	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000340	HP:0000340	Sloping forehead	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000340	HP:0000340	Sloping forehead	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0000340	HP:0000340	Sloping forehead	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000340	HP:0000340	Sloping forehead	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000340	HP:0000340	Sloping forehead	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	9
HP:0000340	HP:0000340	Sloping forehead	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0000340	HP:0000340	Sloping forehead	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.	9
HP:0000340	HP:0000340	Sloping forehead	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0000340	HP:0000340	Sloping forehead	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0000340	HP:0000340	Sloping forehead	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	112
HP:0000340	HP:0000340	Sloping forehead	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.	112
HP:0000340	HP:0000340	Sloping forehead	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000340	HP:0000340	Sloping forehead	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000340	HP:0000340	Sloping forehead	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0000340	HP:0000340	Sloping forehead	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000340	HP:0000340	Sloping forehead	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000340	HP:0000340	Sloping forehead	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	155
HP:0000340	HP:0000340	Sloping forehead	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000340	HP:0000340	Sloping forehead	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	5
HP:0000340	HP:0000340	Sloping forehead	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0000340	HP:0000340	Sloping forehead	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000340	HP:0000340	Sloping forehead	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000340	HP:0000340	Sloping forehead	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000340	HP:0000340	Sloping forehead	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0000340	HP:0000340	Sloping forehead	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0000340	HP:0000340	Sloping forehead	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0000340	HP:0000340	Sloping forehead	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive	.
HP:0000340	HP:0000340	Sloping forehead	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000340	HP:0000340	Sloping forehead	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0000340	HP:0000340	Sloping forehead	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000340	HP:0000340	Sloping forehead	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000340	HP:0000340	Sloping forehead	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0000340	HP:0000340	Sloping forehead	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000340	HP:0000340	Sloping forehead	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000340	HP:0000340	Sloping forehead	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0000340	HP:0000340	Sloping forehead	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000340	HP:0000340	Sloping forehead	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000340	HP:0000340	Sloping forehead	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0000340	HP:0000340	Sloping forehead	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000340	HP:0000340	Sloping forehead	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000340	HP:0000340	Sloping forehead	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000340	HP:0000340	Sloping forehead	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000340	HP:0000340	Sloping forehead	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000340	HP:0000340	Sloping forehead	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	16
HP:0000340	HP:0000340	Sloping forehead	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0000340	HP:0000340	Sloping forehead	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000340	HP:0000340	Sloping forehead	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000340	HP:0000340	Sloping forehead	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000340	HP:0000340	Sloping forehead	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000340	HP:0000340	Sloping forehead	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.	11
HP:0000340	HP:0000340	Sloping forehead	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0000340	HP:0000340	Sloping forehead	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000340	HP:0000340	Sloping forehead	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000340	HP:0000340	Sloping forehead	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0000340	HP:0000340	Sloping forehead	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.	27
HP:0000340	HP:0000340	Sloping forehead	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0000340	HP:0000340	Sloping forehead	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	11
HP:0000340	HP:0000340	Sloping forehead	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000340	HP:0000340	Sloping forehead	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000340	HP:0000340	Sloping forehead	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000340	HP:0000340	Sloping forehead	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0000340	HP:0000340	Sloping forehead	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040282 - Frequent	16
HP:0000340	HP:0000340	Sloping forehead	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2		334
HP:0000340	HP:0000340	Sloping forehead	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000340	HP:0000340	Sloping forehead	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000340	HP:0000340	Sloping forehead	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0000340	HP:0000340	Sloping forehead	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000340	HP:0000340	Sloping forehead	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000340	HP:0000340	Sloping forehead	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000340	HP:0000340	Sloping forehead	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000340	HP:0000340	Sloping forehead	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000340	HP:0000340	Sloping forehead	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent	113
HP:0000340	HP:0000340	Sloping forehead	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0000340	HP:0000340	Sloping forehead	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	4
HP:0000340	HP:0000340	Sloping forehead	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000340	HP:0000340	Sloping forehead	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000340	HP:0000340	Sloping forehead	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0000340	HP:0000340	Sloping forehead	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0000340	HP:0000340	Sloping forehead	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0000340	HP:0000340	Sloping forehead	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000340	HP:0000340	Sloping forehead	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0000340	HP:0000340	Sloping forehead	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0000340	HP:0000340	Sloping forehead	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000340	HP:0000340	Sloping forehead	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000340	HP:0000340	Sloping forehead	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0000340	HP:0000340	Sloping forehead	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000340	HP:0000340	Sloping forehead	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0000340	HP:0000340	Sloping forehead	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	99
HP:0000340	HP:0000340	Sloping forehead	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.	99
HP:0000340	HP:0000340	Sloping forehead	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	2
HP:0000340	HP:0000340	Sloping forehead	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000340	HP:0000340	Sloping forehead	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0000340	HP:0000340	Sloping forehead	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000340	HP:0000340	Sloping forehead	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000340	HP:0000340	Sloping forehead	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000340	HP:0000340	Sloping forehead	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000340	HP:0000340	Sloping forehead	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000340	HP:0000340	Sloping forehead	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000340	HP:0000340	Sloping forehead	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000340	HP:0000340	Sloping forehead	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000340	HP:0000340	Sloping forehead	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0000340	HP:0000340	Sloping forehead	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000340	HP:0000340	Sloping forehead	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000340	HP:0000340	Sloping forehead	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000340	HP:0000340	Sloping forehead	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0000340	HP:0000340	Sloping forehead	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0000340	HP:0000340	Sloping forehead	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0000340	HP:0000340	Sloping forehead	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0000340	HP:0000340	Sloping forehead	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0000340	HP:0000340	Sloping forehead	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0000340	HP:0000340	Sloping forehead	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040283 - Occasional	102
HP:0000340	HP:0000340	Sloping forehead	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000340	HP:0000340	Sloping forehead	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000340	HP:0000340	Sloping forehead	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000340	HP:0000340	Sloping forehead	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000340	HP:0000340	Sloping forehead	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000340	HP:0000340	Sloping forehead	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.	61
HP:0000340	HP:0000340	Sloping forehead	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000340	HP:0000340	Sloping forehead	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000340	HP:0000340	Sloping forehead	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000340	HP:0000340	Sloping forehead	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000340	HP:0000340	Sloping forehead	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0000340	HP:0000340	Sloping forehead	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0000340	HP:0000340	Sloping forehead	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	224
HP:0000340	HP:0000340	Sloping forehead	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0000340	HP:0000340	Sloping forehead	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000340	HP:0000340	Sloping forehead	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000340	HP:0000340	Sloping forehead	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000340	HP:0000340	Sloping forehead	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000340	HP:0000340	Sloping forehead	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000340	HP:0000340	Sloping forehead	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.	60
HP:0000340	HP:0000340	Sloping forehead	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24