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:0000270	HP:0000270	Delayed cranial suture closure	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000270	HP:0000270	Delayed cranial suture closure	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000270	HP:0000270	Delayed cranial suture closure	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000270	HP:0000270	Delayed cranial suture closure	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0000270	HP:0000270	Delayed cranial suture closure	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	3
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0000270	HP:0000270	Delayed cranial suture closure	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000270	HP:0000270	Delayed cranial suture closure	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000270	HP:0000270	Delayed cranial suture closure	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0000270	HP:0000270	Delayed cranial suture closure	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000270	HP:0000270	Delayed cranial suture closure	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent	8
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent	493
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0000270	HP:0000270	Delayed cranial suture closure	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0000270	HP:0000270	Delayed cranial suture closure	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	10
HP:0000270	HP:0000270	Delayed cranial suture closure	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000270	HP:0000270	Delayed cranial suture closure	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0000270	HP:0000270	Delayed cranial suture closure	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0000270	HP:0000270	Delayed cranial suture closure	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		4
HP:0000270	HP:0000270	Delayed cranial suture closure	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0000270	HP:0000270	Delayed cranial suture closure	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000270	HP:0000270	Delayed cranial suture closure	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0000270	HP:0000270	Delayed cranial suture closure	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000270	HP:0000270	Delayed cranial suture closure	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	345
HP:0000270	HP:0000270	Delayed cranial suture closure	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0000270	HP:0000270	Delayed cranial suture closure	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15		9
HP:0000270	HP:0000270	Delayed cranial suture closure	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0000270	HP:0000270	Delayed cranial suture closure	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	1
HP:0000270	HP:0000270	Delayed cranial suture closure	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0000270	HP:0000270	Delayed cranial suture closure	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0000270	HP:0000270	Delayed cranial suture closure	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	88
HP:0000270	HP:0000270	Delayed cranial suture closure	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000270	HP:0000270	Delayed cranial suture closure	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy		64
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000270	HP:0000270	Delayed cranial suture closure	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000270	HP:0000270	Delayed cranial suture closure	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040282 - Frequent	23
HP:0000270	HP:0000270	Delayed cranial suture closure	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000270	HP:0000270	Delayed cranial suture closure	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0000270	HP:0000270	Delayed cranial suture closure	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040282 - Frequent	84
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)		46
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0000270	HP:0000270	Delayed cranial suture closure	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000270	HP:0000270	Delayed cranial suture closure	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0000270	HP:0000270	Delayed cranial suture closure	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	148
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000270	HP:0000270	Delayed cranial suture closure	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent	6
HP:0000270	HP:0000270	Delayed cranial suture closure	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	16
HP:0000270	HP:0000270	Delayed cranial suture closure	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.	120
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000270	HP:0000270	Delayed cranial suture closure	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0000270	HP:0000270	Delayed cranial suture closure	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000270	HP:0000270	Delayed cranial suture closure	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	150
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000270	HP:0000270	Delayed cranial suture closure	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent	4
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000270	HP:0000270	Delayed cranial suture closure	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000270	HP:0000270	Delayed cranial suture closure	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000270	HP:0000270	Delayed cranial suture closure	0	USP7 CL E G H	7874	12630	OMIM:616863	Chromosome 16p13.2 deletion syndrome		2
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000270	HP:0000270	Delayed cranial suture closure	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	140
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	3
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040280 - Obligate	2
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	4
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040284 - Very rare	9
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent	217
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0000270	HP:0001476	Delayed closure of the anterior fontanelle	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040283 - Occasional	102
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent	39
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA		50
HP:0000270	HP:0004474	Persistent open anterior fontanelle	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90