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:0000268	HP:0000268	Dolichocephaly	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000268	HP:0000268	Dolichocephaly	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000268	HP:0000268	Dolichocephaly	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0000268	HP:0000268	Dolichocephaly	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0000268	HP:0000268	Dolichocephaly	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0000268	HP:0000268	Dolichocephaly	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0000268	HP:0000268	Dolichocephaly	0	ALX4 CL E G H	60529	450	ORPHA:35093	Isolated scaphocephaly	HP:0040281 - Very frequent	132
HP:0000268	HP:0000268	Dolichocephaly	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	1
HP:0000268	HP:0000268	Dolichocephaly	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3		1
HP:0000268	HP:0000268	Dolichocephaly	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay		3
HP:0000268	HP:0000268	Dolichocephaly	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0000268	HP:0000268	Dolichocephaly	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000268	HP:0000268	Dolichocephaly	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000268	HP:0000268	Dolichocephaly	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000268	HP:0000268	Dolichocephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000268	HP:0000268	Dolichocephaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0000268	HP:0000268	Dolichocephaly	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000268	HP:0000268	Dolichocephaly	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000268	HP:0000268	Dolichocephaly	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000268	HP:0000268	Dolichocephaly	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0000268	HP:0000268	Dolichocephaly	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0000268	HP:0000268	Dolichocephaly	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7	.	276
HP:0000268	HP:0000268	Dolichocephaly	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0000268	HP:0000268	Dolichocephaly	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0000268	HP:0000268	Dolichocephaly	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0000268	HP:0000268	Dolichocephaly	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent	13
HP:0000268	HP:0000268	Dolichocephaly	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	5
HP:0000268	HP:0000268	Dolichocephaly	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000268	HP:0000268	Dolichocephaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000268	HP:0000268	Dolichocephaly	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0000268	HP:0000268	Dolichocephaly	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	68
HP:0000268	HP:0000268	Dolichocephaly	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000268	HP:0000268	Dolichocephaly	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0000268	HP:0000268	Dolichocephaly	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000268	HP:0000268	Dolichocephaly	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0000268	HP:0000268	Dolichocephaly	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0000268	HP:0000268	Dolichocephaly	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0000268	HP:0000268	Dolichocephaly	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000268	HP:0000268	Dolichocephaly	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0000268	HP:0000268	Dolichocephaly	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000268	HP:0000268	Dolichocephaly	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000268	HP:0000268	Dolichocephaly	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	127
HP:0000268	HP:0000268	Dolichocephaly	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0000268	HP:0000268	Dolichocephaly	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent	48
HP:0000268	HP:0000268	Dolichocephaly	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.	48
HP:0000268	HP:0000268	Dolichocephaly	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0000268	HP:0000268	Dolichocephaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0000268	HP:0000268	Dolichocephaly	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0000268	HP:0000268	Dolichocephaly	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0000268	HP:0000268	Dolichocephaly	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000268	HP:0000268	Dolichocephaly	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0000268	HP:0000268	Dolichocephaly	0	ERF CL E G H	2077	3444	ORPHA:35093	Isolated scaphocephaly	HP:0040281 - Very frequent	12
HP:0000268	HP:0000268	Dolichocephaly	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0000268	HP:0000268	Dolichocephaly	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional	36
HP:0000268	HP:0000268	Dolichocephaly	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0000268	HP:0000268	Dolichocephaly	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0000268	HP:0000268	Dolichocephaly	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0000268	HP:0000268	Dolichocephaly	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0000268	HP:0000268	Dolichocephaly	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0000268	HP:0000268	Dolichocephaly	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000268	HP:0000268	Dolichocephaly	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0000268	HP:0000268	Dolichocephaly	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0000268	HP:0000268	Dolichocephaly	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0000268	HP:0000268	Dolichocephaly	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0000268	HP:0000268	Dolichocephaly	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0000268	HP:0000268	Dolichocephaly	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000268	HP:0000268	Dolichocephaly	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000268	HP:0000268	Dolichocephaly	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0000268	HP:0000268	Dolichocephaly	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0000268	HP:0000268	Dolichocephaly	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0000268	HP:0000268	Dolichocephaly	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0000268	HP:0000268	Dolichocephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000268	HP:0000268	Dolichocephaly	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040282 - Frequent	175
HP:0000268	HP:0000268	Dolichocephaly	0	FGFR2 CL E G H	2263	3689	OMIM:609579	Familial scaphocephaly syndrome, Mcgillivray type	.	175
HP:0000268	HP:0000268	Dolichocephaly	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000268	HP:0000268	Dolichocephaly	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000268	HP:0000268	Dolichocephaly	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional	184
HP:0000268	HP:0000268	Dolichocephaly	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000268	HP:0000268	Dolichocephaly	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0000268	HP:0000268	Dolichocephaly	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0000268	HP:0000268	Dolichocephaly	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0000268	HP:0000268	Dolichocephaly	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0000268	HP:0000268	Dolichocephaly	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0000268	HP:0000268	Dolichocephaly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	.	270
HP:0000268	HP:0000268	Dolichocephaly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000268	HP:0000268	Dolichocephaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000268	HP:0000268	Dolichocephaly	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000268	HP:0000268	Dolichocephaly	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0000268	HP:0000268	Dolichocephaly	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000268	HP:0000268	Dolichocephaly	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000268	HP:0000268	Dolichocephaly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0000268	HP:0000268	Dolichocephaly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000268	HP:0000268	Dolichocephaly	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0000268	HP:0000268	Dolichocephaly	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0000268	HP:0000268	Dolichocephaly	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000268	HP:0000268	Dolichocephaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000268	HP:0000268	Dolichocephaly	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000268	HP:0000268	Dolichocephaly	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0000268	HP:0000268	Dolichocephaly	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0000268	HP:0000268	Dolichocephaly	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0000268	HP:0000268	Dolichocephaly	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000268	HP:0000268	Dolichocephaly	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000268	HP:0000268	Dolichocephaly	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0000268	HP:0000268	Dolichocephaly	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000268	HP:0000268	Dolichocephaly	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	18
HP:0000268	HP:0000268	Dolichocephaly	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000268	HP:0000268	Dolichocephaly	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000268	HP:0000268	Dolichocephaly	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000268	HP:0000268	Dolichocephaly	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional	3
HP:0000268	HP:0000268	Dolichocephaly	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0000268	HP:0000268	Dolichocephaly	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0000268	HP:0000268	Dolichocephaly	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000268	HP:0000268	Dolichocephaly	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0000268	HP:0000268	Dolichocephaly	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0000268	HP:0000268	Dolichocephaly	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000268	HP:0000268	Dolichocephaly	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	2
HP:0000268	HP:0000268	Dolichocephaly	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	HP:0040284 - Very rare	9
HP:0000268	HP:0000268	Dolichocephaly	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0000268	HP:0000268	Dolichocephaly	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000268	HP:0000268	Dolichocephaly	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0000268	HP:0000268	Dolichocephaly	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000268	HP:0000268	Dolichocephaly	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome		13
HP:0000268	HP:0000268	Dolichocephaly	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000268	HP:0000268	Dolichocephaly	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000268	HP:0000268	Dolichocephaly	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0000268	HP:0000268	Dolichocephaly	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0000268	HP:0000268	Dolichocephaly	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000268	HP:0000268	Dolichocephaly	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0000268	HP:0000268	Dolichocephaly	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000268	HP:0000268	Dolichocephaly	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000268	HP:0000268	Dolichocephaly	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000268	HP:0000268	Dolichocephaly	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0000268	HP:0000268	Dolichocephaly	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000268	HP:0000268	Dolichocephaly	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000268	HP:0000268	Dolichocephaly	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0000268	HP:0000268	Dolichocephaly	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0000268	HP:0000268	Dolichocephaly	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent	150
HP:0000268	HP:0000268	Dolichocephaly	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000268	HP:0000268	Dolichocephaly	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional	166
HP:0000268	HP:0000268	Dolichocephaly	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000268	HP:0000268	Dolichocephaly	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0000268	HP:0000268	Dolichocephaly	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000268	HP:0000268	Dolichocephaly	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0000268	HP:0000268	Dolichocephaly	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0000268	HP:0000268	Dolichocephaly	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000268	HP:0000268	Dolichocephaly	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0000268	HP:0000268	Dolichocephaly	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0000268	HP:0000268	Dolichocephaly	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000268	HP:0000268	Dolichocephaly	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000268	HP:0000268	Dolichocephaly	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0000268	HP:0000268	Dolichocephaly	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0000268	HP:0000268	Dolichocephaly	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	544
HP:0000268	HP:0000268	Dolichocephaly	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000268	HP:0000268	Dolichocephaly	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0000268	HP:0000268	Dolichocephaly	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000268	HP:0000268	Dolichocephaly	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent	143
HP:0000268	HP:0000268	Dolichocephaly	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0000268	HP:0000268	Dolichocephaly	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000268	HP:0000268	Dolichocephaly	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000268	HP:0000268	Dolichocephaly	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000268	HP:0000268	Dolichocephaly	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0000268	HP:0000268	Dolichocephaly	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000268	HP:0000268	Dolichocephaly	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000268	HP:0000268	Dolichocephaly	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000268	HP:0000268	Dolichocephaly	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000268	HP:0000268	Dolichocephaly	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000268	HP:0000268	Dolichocephaly	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000268	HP:0000268	Dolichocephaly	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000268	HP:0000268	Dolichocephaly	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.	46
HP:0000268	HP:0000268	Dolichocephaly	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000268	HP:0000268	Dolichocephaly	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000268	HP:0000268	Dolichocephaly	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0000268	HP:0000268	Dolichocephaly	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000268	HP:0000268	Dolichocephaly	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000268	HP:0000268	Dolichocephaly	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000268	HP:0000268	Dolichocephaly	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000268	HP:0000268	Dolichocephaly	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0000268	HP:0000268	Dolichocephaly	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000268	HP:0000268	Dolichocephaly	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000268	HP:0000268	Dolichocephaly	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0000268	HP:0000268	Dolichocephaly	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	.	11
HP:0000268	HP:0000268	Dolichocephaly	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0000268	HP:0000268	Dolichocephaly	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0000268	HP:0000268	Dolichocephaly	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	7
HP:0000268	HP:0000268	Dolichocephaly	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000268	HP:0000268	Dolichocephaly	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0000268	HP:0000268	Dolichocephaly	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0000268	HP:0000268	Dolichocephaly	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000268	HP:0000268	Dolichocephaly	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0000268	HP:0000268	Dolichocephaly	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional	948
HP:0000268	HP:0000268	Dolichocephaly	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000268	HP:0000268	Dolichocephaly	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	RAB39B CL E G H	116442	16499	OMIM:300271	Mental retardation, X-linked 72	.	34
HP:0000268	HP:0000268	Dolichocephaly	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0000268	HP:0000268	Dolichocephaly	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0000268	HP:0000268	Dolichocephaly	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000268	HP:0000268	Dolichocephaly	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0000268	HP:0000268	Dolichocephaly	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0000268	HP:0000268	Dolichocephaly	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000268	HP:0000268	Dolichocephaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000268	HP:0000268	Dolichocephaly	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0000268	HP:0000268	Dolichocephaly	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000268	HP:0000268	Dolichocephaly	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000268	HP:0000268	Dolichocephaly	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0000268	HP:0000268	Dolichocephaly	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000268	HP:0000268	Dolichocephaly	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000268	HP:0000268	Dolichocephaly	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000268	HP:0000268	Dolichocephaly	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0000268	HP:0000268	Dolichocephaly	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0000268	HP:0000268	Dolichocephaly	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent	60
HP:0000268	HP:0000268	Dolichocephaly	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000268	HP:0000268	Dolichocephaly	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000268	HP:0000268	Dolichocephaly	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000268	HP:0000268	Dolichocephaly	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0000268	HP:0000268	Dolichocephaly	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040282 - Frequent	9
HP:0000268	HP:0000268	Dolichocephaly	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent	55
HP:0000268	HP:0000268	Dolichocephaly	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000268	HP:0000268	Dolichocephaly	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0000268	HP:0000268	Dolichocephaly	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000268	HP:0000268	Dolichocephaly	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional	94
HP:0000268	HP:0000268	Dolichocephaly	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0000268	HP:0000268	Dolichocephaly	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000268	HP:0000268	Dolichocephaly	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000268	HP:0000268	Dolichocephaly	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000268	HP:0000268	Dolichocephaly	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent	11
HP:0000268	HP:0000268	Dolichocephaly	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000268	HP:0000268	Dolichocephaly	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0000268	HP:0000268	Dolichocephaly	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000268	HP:0000268	Dolichocephaly	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000268	HP:0000268	Dolichocephaly	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000268	HP:0000268	Dolichocephaly	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000268	HP:0000268	Dolichocephaly	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000268	HP:0000268	Dolichocephaly	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000268	HP:0000268	Dolichocephaly	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000268	HP:0000268	Dolichocephaly	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000268	HP:0000268	Dolichocephaly	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.	78
HP:0000268	HP:0000268	Dolichocephaly	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000268	HP:0000268	Dolichocephaly	0	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1	.	18
HP:0000268	HP:0000268	Dolichocephaly	0	TWIST1 CL E G H	7291	12428	ORPHA:35093	Isolated scaphocephaly	HP:0040281 - Very frequent	18
HP:0000268	HP:0000268	Dolichocephaly	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0000268	HP:0000268	Dolichocephaly	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000268	HP:0000268	Dolichocephaly	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040282 - Frequent	104
HP:0000268	HP:0000268	Dolichocephaly	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0000268	HP:0000268	Dolichocephaly	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0000268	HP:0000268	Dolichocephaly	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000268	HP:0000268	Dolichocephaly	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000268	HP:0000268	Dolichocephaly	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0000268	HP:0000268	Dolichocephaly	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000268	HP:0000268	Dolichocephaly	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000268	HP:0000268	Dolichocephaly	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0000268	HP:0000268	Dolichocephaly	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	.
HP:0000268	HP:0030799	Scaphocephaly	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000268	HP:0030799	Scaphocephaly	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0000268	HP:0030799	Scaphocephaly	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0000268	HP:0030799	Scaphocephaly	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000268	HP:0030799	Scaphocephaly	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0000268	HP:0030799	Scaphocephaly	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0000268	HP:0030799	Scaphocephaly	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0000268	HP:0030799	Scaphocephaly	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0000268	HP:0030799	Scaphocephaly	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.	3
HP:0000268	HP:0030799	Scaphocephaly	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0000268	HP:0030799	Scaphocephaly	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0000268	HP:0030799	Scaphocephaly	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0000268	HP:0030799	Scaphocephaly	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome	.	270
HP:0000268	HP:0030799	Scaphocephaly	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000268	HP:0030799	Scaphocephaly	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0000268	HP:0030799	Scaphocephaly	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000268	HP:0030799	Scaphocephaly	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000268	HP:0030799	Scaphocephaly	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.	148
HP:0000268	HP:0030799	Scaphocephaly	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0000268	HP:0030799	Scaphocephaly	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies	HP:0040283 - Occasional	8
HP:0000268	HP:0030799	Scaphocephaly	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0000268	HP:0030799	Scaphocephaly	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000268	HP:0030799	Scaphocephaly	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000268	HP:0030799	Scaphocephaly	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000268	HP:0030799	Scaphocephaly	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0000268	HP:0030799	Scaphocephaly	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.	13
HP:0000268	HP:0030799	Scaphocephaly	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	.	196
HP:0000268	HP:0030799	Scaphocephaly	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0000268	HP:0030799	Scaphocephaly	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000268	HP:0030799	Scaphocephaly	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000268	HP:0030799	Scaphocephaly	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000268	HP:0030799	Scaphocephaly	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000268	HP:0030799	Scaphocephaly	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000268	HP:0030799	Scaphocephaly	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000268	HP:0030799	Scaphocephaly	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0000268	HP:0030799	Scaphocephaly	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000268	HP:0030799	Scaphocephaly	1	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0000268	HP:0030799	Scaphocephaly	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000268	HP:0030799	Scaphocephaly	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0000268	HP:0030799	Scaphocephaly	1	TWIST1 CL E G H	7291	12428	OMIM:123100	Craniosynostosis 1	.	18