Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormality of skull size (HP:0000240)

Parent Node:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Parent Node:
Decreased head circumference (HP:0040195)

..Starting node
..Microcephaly (HP:0000252)

Term ID:

252

Name:

Microcephaly

Synonym:

Abnormally small cranium; Abnormally small head; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of head; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head; Small head circumference; Small skull

Definition:

Head circumference below 2 standard deviations below the mean for age and gender.

Comments:

Reference:

HP:0000252

Genes and Diseases:

Child Nodes:

........

Progressive microcephaly (HP:0000253)

........

Postnatal microcephaly (HP:0005484)

................... HP:0004485 Cessation of head growth

........

Congenital microcephaly (HP:0011451)

Sister Nodes:

Mild microcephaly (HP:0040196)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000252	HP:0000252	Microcephaly	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	79	99	13666	605378
HP:0000252	HP:0000252	Microcephaly	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1	21		20	601065
HP:0000252	HP:0000252	Microcephaly	0	ABCC8 CL E G H	6833	276575				ORPHA	1	661	602	59	600509
HP:0000252	HP:0000252	Microcephaly	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	15	229	91	600301
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	3322				ORPHA	1	9	135	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	9	135	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	55	228	2707	106180
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	224	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0000252	HP:0000252	Microcephaly	0	ADAMTSL1 CL E G H	92949	521445				ORPHA	1	3	108	14632	609198
HP:0000252	HP:0000252	Microcephaly	0	ADAR CL E G H	103	51				ORPHA	1	229	316	225	146920
HP:0000252	HP:0000252	Microcephaly	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	8	47	245	601568
HP:0000252	HP:0000252	Microcephaly	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	58	279	291	608222
HP:0000252	HP:0000252	Microcephaly	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	38	239	318	613228
HP:0000252	HP:0000252	Microcephaly	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	27	130	333	106150
HP:0000252	HP:0000252	Microcephaly	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	16	78	336	106165
HP:0000252	HP:0000252	Microcephaly	0	AHSG CL E G H	197	2850				ORPHA	1	6	57	349	138680
HP:0000252	HP:0000252	Microcephaly	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	34	10648	603605
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	33	252	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	33	252	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	6	130	7179	603178
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	79327				ORPHA	1	44	168	18294	605907
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	44	168	18294	605907
HP:0000252	HP:0000252	Microcephaly	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	14	463	30881	300776
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	79321				ORPHA	1	19	123	23056	608750
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	601110	Congenital disorder of glycosylation type 1D	601110	C1832736	OMIM	1	19	123	23056	608750
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	4	160	15672	606941
HP:0000252	HP:0000252	Microcephaly	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1	27	221	450	605420
HP:0000252	HP:0000252	Microcephaly	0	ANK1 CL E G H	286	251066				ORPHA	1	111	388	492	612641
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	2	81	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	2	81	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	134	721	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	134	721	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	AP1S2 CL E G H	8905	85329				ORPHA	1	14	204	560	300629
HP:0000252	HP:0000252	Microcephaly	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	35	238	566	603401
HP:0000252	HP:0000252	Microcephaly	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	4	90	568	607246
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	280763				ORPHA	1	21	140	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	21	140	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	280763				ORPHA	1	18	178	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	18	178	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	280763				ORPHA	1	15	150	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	15	150	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	280763				ORPHA	1	8	59	575	607243
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	8	59	575	607243
HP:0000252	HP:0000252	Microcephaly	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	3	51	649	600820
HP:0000252	HP:0000252	Microcephaly	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	7	103	29216	610911
HP:0000252	HP:0000252	Microcephaly	0	ARID1A CL E G H	8289	1465				ORPHA	1	36	175	11110	603024
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	1465				ORPHA	1	188	575	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	251056				ORPHA	1	188	575	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID2 CL E G H	196528	1465				ORPHA	1	11	115	18037	609539
HP:0000252	HP:0000252	Microcephaly	0	ARSE CL E G H	415	302950	Chondrodysplasia punctata 1, X-linked recessive	302950	C1844853	OMIM	1	46		719	300180
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	2508				ORPHA	1	98	466	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	452				ORPHA	1	98	466	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	98	466	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	466	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	2512				ORPHA	1	213	790	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	213	790	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	97297				ORPHA	1	41	199	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	199	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	50	174	29357	615115
HP:0000252	HP:0000252	Microcephaly	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	3	90	823	164360
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	56	309	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	56	309	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	565				ORPHA	1	357	607	869	300011
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	357	607	869	300011
HP:0000252	HP:0000252	Microcephaly	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	187	18802	608918
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	34	404	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	34	404	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	2	183	33499	606605
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	847				ORPHA	1	170	663	886	300032
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	886	300032
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	170	663	886	300032
HP:0000252	HP:0000252	Microcephaly	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	62	242	14262	607270
HP:0000252	HP:0000252	Microcephaly	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	181	20207	610308
HP:0000252	HP:0000252	Microcephaly	0	B9D1 CL E G H	27077	564				ORPHA	1	10	158	24123	614144
HP:0000252	HP:0000252	Microcephaly	0	B9D2 CL E G H	80776	564				ORPHA	1	4	40	28636	611951
HP:0000252	HP:0000252	Microcephaly	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	187	961	605681
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	369939				ORPHA	1	9	247	16695	300398
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	9	247	16695	300398
HP:0000252	HP:0000252	Microcephaly	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	32	87	13221	606557
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	55	415	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	415	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCR CL E G H	613	261330				ORPHA	1	2	211	1014	151410
HP:0000252	HP:0000252	Microcephaly	0	BDNF CL E G H	627	893				ORPHA	1	35	43	1033	113505
HP:0000252	HP:0000252	Microcephaly	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1	131	1516	1058	604610
HP:0000252	HP:0000252	Microcephaly	0	BRAT1 CL E G H	221927	618056	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES	618056	CN252657	OMIM	1	18	482	21701	614506
HP:0000252	HP:0000252	Microcephaly	0	BRCA1 CL E G H	672	84				ORPHA	1	2824	11498	1100	113705
HP:0000252	HP:0000252	Microcephaly	0	BRCA2 CL E G H	675	84				ORPHA	1	3025	12706	1101	600185
HP:0000252	HP:0000252	Microcephaly	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	17	123	11551	604902
HP:0000252	HP:0000252	Microcephaly	0	BRIP1 CL E G H	83990	84				ORPHA	1	202	3050	20473	605882
HP:0000252	HP:0000252	Microcephaly	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	20	85	1148	602452
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	29	323	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	29	323	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	6	49	1151	603719
HP:0000252	HP:0000252	Microcephaly	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	10	123	24564	615944
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	163937				ORPHA	1	119	446	1497	300172
HP:0000252	HP:0000252	Microcephaly	0	CC2D2A CL E G H	57545	564				ORPHA	1	96	584	29253	612013
HP:0000252	HP:0000252	Microcephaly	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	5	20	24856	0
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	3	47	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	3	47	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CDC45 CL E G H	8318	2554				ORPHA	1	19	398	1739	603465
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	2554				ORPHA	1	4	58	1744	602627
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	613805	Meier-Gorlin syndrome 5	613805	C3151126	OMIM	1	4	58	1744	602627
HP:0000252	HP:0000252	Microcephaly	0	CDCA7 CL E G H	83879	616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	616910	C4310799	OMIM	1	6	46	14628	609937
HP:0000252	HP:0000252	Microcephaly	0	CDH11 CL E G H	1009	1299				ORPHA	1	10	40	1750	600023
HP:0000252	HP:0000252	Microcephaly	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	5	75	1774	123831
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	23	335	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	604804	Primary autosomal recessive microcephaly 3	604804	C1858108	OMIM	1	23	335	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	2512				ORPHA	1	1	32	1777	603368
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	616080	Primary autosomal recessive microcephaly 12	616080	C4015156	OMIM	1	1	32	1777	603368
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	3095				ORPHA	1	388	1046	11411	300203
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	280200				ORPHA	1	13	391	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	13	391	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	2554				ORPHA	1	12	158	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	613804	Meier-Gorlin syndrome 4	613804	C3151120	OMIM	1	12	158	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	4	100	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	4	100	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	2512				ORPHA	1	10	285	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	10	285	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	10	285	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	10	285	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	2512				ORPHA	1	4	88	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	4	88	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	2512				ORPHA	1	20	252	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	20	252	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	614852	Primary autosomal recessive microcephaly 9	614852	C3553886	OMIM	1	20	252	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	20	252	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP290 CL E G H	80184	564				ORPHA	1	310	884	29021	610142
HP:0000252	HP:0000252	Microcephaly	0	CEP55 CL E G H	55165	564				ORPHA	1	2	34	1161	610000
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	5	155	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	5	155	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	2512				ORPHA	1	2	93	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	2	93	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	884	1266	20626	608892
HP:0000252	HP:0000252	Microcephaly	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	27	282	1938	612395
HP:0000252	HP:0000252	Microcephaly	0	CHRNG CL E G H	1146	2990				ORPHA	1	35	160	1967	100730
HP:0000252	HP:0000252	Microcephaly	0	CHUK CL E G H	1147	613630	Cocoon syndrome	613630	C3150891	OMIM	1	5	30	1974	600664
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	2512				ORPHA	1	15	113	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	15	113	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	42	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	7	42	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	174	2586	603432
HP:0000252	HP:0000252	Microcephaly	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	217	30664	616254
HP:0000252	HP:0000252	Microcephaly	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	7	131	103	607803
HP:0000252	HP:0000252	Microcephaly	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	75	8011	602346
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	85172				ORPHA	1	6	141	18620	606976
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0000252	HP:0000252	Microcephaly	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	10	189	18621	606977
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2512				ORPHA	1	4	33	2232	606990
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	4	33	2232	606990
HP:0000252	HP:0000252	Microcephaly	0	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	5	188	2263	603646
HP:0000252	HP:0000252	Microcephaly	0	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	5	164	2291	300885
HP:0000252	HP:0000252	Microcephaly	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	1	5	164	2291	300885
HP:0000252	HP:0000252	Microcephaly	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	3	143	2309	605032
HP:0000252	HP:0000252	Microcephaly	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	113	366	2330	600650
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0000252	HP:0000252	Microcephaly	0	CRKL CL E G H	1399	261330				ORPHA	1	16	376	2363	602007
HP:0000252	HP:0000252	Microcephaly	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	20	102	2457	115440
HP:0000252	HP:0000252	Microcephaly	0	CSPP1 CL E G H	79848	564				ORPHA	1	27	257	26193	611654
HP:0000252	HP:0000252	Microcephaly	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	1	164	2494	602618
HP:0000252	HP:0000252	Microcephaly	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	18	96	13723	604167
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	54	180	2514	116806
HP:0000252	HP:0000252	Microcephaly	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	37	161	2516	604275
HP:0000252	HP:0000252	Microcephaly	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	332	2529	116840
HP:0000252	HP:0000252	Microcephaly	0	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	4	103	28005	617057
HP:0000252	HP:0000252	Microcephaly	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	85	2873	613213
HP:0000252	HP:0000252	Microcephaly	0	CYP26C1 CL E G H	340665	398189				ORPHA	1	11	33	20577	608428
HP:0000252	HP:0000252	Microcephaly	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	2	95	29812	610534
HP:0000252	HP:0000252	Microcephaly	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	7	97	2736	601150
HP:0000252	HP:0000252	Microcephaly	0	DDX3X CL E G H	1654	457260				ORPHA	1	78	337	2745	300160
HP:0000252	HP:0000252	Microcephaly	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	3	390	2845	600594
HP:0000252	HP:0000252	Microcephaly	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	3	317	2846	601279
HP:0000252	HP:0000252	Microcephaly	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	2	381	2847	609030
HP:0000252	HP:0000252	Microcephaly	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0000252	HP:0000252	Microcephaly	0	DHCR24 CL E G H	1718	35107				ORPHA	1	10	137	2859	606418
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	818				ORPHA	1	218	376	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	376	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	18	138	23537	614984
HP:0000252	HP:0000252	Microcephaly	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	15	359	2876	602121
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	280200				ORPHA	1	11	100	19711	607502
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	3322				ORPHA	1	75	322	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	101	2896	608770
HP:0000252	HP:0000252	Microcephaly	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	23	202	2898	238331
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	280200				ORPHA	1	19	132	2908	606582
HP:0000252	HP:0000252	Microcephaly	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	8	146	2939	601810
HP:0000252	HP:0000252	Microcephaly	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	20	197	2973	603850
HP:0000252	HP:0000252	Microcephaly	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	22	219	19189	614194
HP:0000252	HP:0000252	Microcephaly	0	DONSON CL E G H	29980	251230	Microcephaly-micromelia syndrome	251230	C1855079	OMIM	1	21	76	2993	611428
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	42	157	2995	191350
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	42	157	2995	191350
HP:0000252	HP:0000252	Microcephaly	0	DPF2 CL E G H	5977	1465				ORPHA	1	9	14	9964	601671
HP:0000252	HP:0000252	Microcephaly	0	DPM1 CL E G H	8813	79322				ORPHA	1	9	120	3005	603503
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	2514				ORPHA	1	11	81	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	11	81	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0000252	HP:0000252	Microcephaly	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	11	50	29043	612666
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	239				ORPHA	1	37	124	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	223800	Dyggve-Melchior-Clausen syndrome	223800	C0265286	OMIM	1	37	124	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	607326	Smith-McCort dysplasia 1	607326	C1846431	OMIM	1	37	124	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	EDC3 CL E G H	80153	616460	Mental retardation, autosomal recessive 50	616460	C4225319	OMIM	1	1	43	26114	609842
HP:0000252	HP:0000252	Microcephaly	0	EFNB1 CL E G H	1947	1520				ORPHA	1	118	181	3226	300035
HP:0000252	HP:0000252	Microcephaly	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	101	124	30858	603892
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	96147				ORPHA	1	94	746	24650	607001
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	81	125	3255	604032
HP:0000252	HP:0000252	Microcephaly	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	3267	300161
HP:0000252	HP:0000252	Microcephaly	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	523	3327	130160
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	1270				ORPHA	1	1	59	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	211180	Bowen-Conradi syndrome	211180	C1859405	OMIM	1	1	59	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	ENTPD1 CL E G H	953	401810				ORPHA	1	6	53	3363	601752
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	107	415	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	1466				ORPHA	1	8	53	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	8	53	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	1466				ORPHA	1	108	227	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	610756	Cerebrooculofacioskeletal syndrome 2	610756	C1853102	OMIM	1	108	227	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	108	227	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	108	227	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	20	122	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	84				ORPHA	1	72	348	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	72	348	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	348	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	1466				ORPHA	1	59	263	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	616570	Cerebrooculofacioskeletal syndrome 3	616570	C1851443	OMIM	1	59	263	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	1466				ORPHA	1	140	499	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	499	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	140	499	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	140	499	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6L2 CL E G H	375748	615715	Bone marrow failure syndrome 2	615715	C3810350	OMIM	1	14	67	26922	615667
HP:0000252	HP:0000252	Microcephaly	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	70	199	3439	609412
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	3103				ORPHA	1	31	215	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	31	215	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	31	215	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	1	382	16817	601755
HP:0000252	HP:0000252	Microcephaly	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	2	22	9137	606180
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	28	139	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	28	139	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	84				ORPHA	1	689	1706	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	689	1706	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCB CL E G H	2187	84				ORPHA	1	21	352	3583	300515
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	84				ORPHA	1	65	882	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	65	882	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	84				ORPHA	1	64	429	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	64	429	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	84				ORPHA	1	17	201	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	17	201	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCF CL E G H	2188	84				ORPHA	1	16	202	3587	613897
HP:0000252	HP:0000252	Microcephaly	0	FANCG CL E G H	2189	84				ORPHA	1	92	325	3588	602956
HP:0000252	HP:0000252	Microcephaly	0	FANCI CL E G H	55215	84				ORPHA	1	45	521	25568	611360
HP:0000252	HP:0000252	Microcephaly	0	FANCL CL E G H	55120	84				ORPHA	1	24	176	20748	608111
HP:0000252	HP:0000252	Microcephaly	0	FANCM CL E G H	57697	84				ORPHA	1	53	697	23168	609644
HP:0000252	HP:0000252	Microcephaly	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	40	26222	616107
HP:0000252	HP:0000252	Microcephaly	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	24	261	21062	611592
HP:0000252	HP:0000252	Microcephaly	0	FBLN5 CL E G H	10516	219100	Autosomal recessive cutis laxa type IA	219100	CN033664	OMIM	1	23	142	3602	604580
HP:0000252	HP:0000252	Microcephaly	0	FBXO11 CL E G H	80204	618089	INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	618089	CN252702	OMIM	1	26	77	13590	607871
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	280200				ORPHA	1	41	54	3686	600483
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	280200				ORPHA	1	265	388	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	265	388	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	190440	Trigonocephaly 1	190440	C0432122	OMIM	1	265	388	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	85165				ORPHA	1	77	431	3690	134934
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	610474	Camptodactyly, tall stature, and hearing loss syndrome	610474	C1864852	OMIM	1	77	431	3690	134934
HP:0000252	HP:0000252	Microcephaly	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	7	199	3693	605830
HP:0000252	HP:0000252	Microcephaly	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	890	3700	136850
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	71	425	16873	609390
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	141	402	17997	606596
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	402	17997	606596
HP:0000252	HP:0000252	Microcephaly	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	450	3622	607440
HP:0000252	HP:0000252	Microcephaly	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	215	1036	27310	607273
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	3095				ORPHA	1	169	357	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	280200				ORPHA	1	33	188	3814	603621
HP:0000252	HP:0000252	Microcephaly	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	61	675	19185	607830
HP:0000252	HP:0000252	Microcephaly	0	FTO CL E G H	79068	612938	Growth retardation, developmental delay, coarse facies, and early death	612938	C2752001	OMIM	1	16	148	24678	610966
HP:0000252	HP:0000252	Microcephaly	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	40	119	24861	611045
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	3095				ORPHA	1	8	209	4507	607340
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	617903	NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS	617903	CN870852	OMIM	1	8	209	4507	607340
HP:0000252	HP:0000252	Microcephaly	0	GABRD CL E G H	2563	1606				ORPHA	1	7	278	4084	137163
HP:0000252	HP:0000252	Microcephaly	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	7	102	4092	605363
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	280200				ORPHA	1	6	42	4165	139185
HP:0000252	HP:0000252	Microcephaly	0	GATA4 CL E G H	2626	251071				ORPHA	1	171	341	4173	600576
HP:0000252	HP:0000252	Microcephaly	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1	494	206	4177	606463
HP:0000252	HP:0000252	Microcephaly	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	19	218	13780	606639
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	109	141	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	109	141	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	37	350	4279	121013
HP:0000252	HP:0000252	Microcephaly	0	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	63	347	4281	600897
HP:0000252	HP:0000252	Microcephaly	0	GJB3 CL E G H	2707	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	40	122	4285	603324
HP:0000252	HP:0000252	Microcephaly	0	GJB4 CL E G H	127534	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	21	46	4286	605425
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	280200				ORPHA	1	88	372	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	88	372	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0000252	HP:0000252	Microcephaly	0	GMNN CL E G H	51053	2554				ORPHA	1	3	21	17493	602842
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	49	151	22932	615320
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	49	151	22932	615320
HP:0000252	HP:0000252	Microcephaly	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	16	144	4416	602744
HP:0000252	HP:0000252	Microcephaly	0	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	16	108	25676	607983
HP:0000252	HP:0000252	Microcephaly	0	GPKOW CL E G H	27238	2570	Growth deficiency brachydactyly unusual facies			ORPHA	1	2	163	30677	301003
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	10	58	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	10	58	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	2	77	4588	602717
HP:0000252	HP:0000252	Microcephaly	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	1	2	69	4651	189964
HP:0000252	HP:0000252	Microcephaly	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	157	4659	601679
HP:0000252	HP:0000252	Microcephaly	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	206	4661	604318
HP:0000252	HP:0000252	Microcephaly	0	HBA1 CL E G H	3039	98791				ORPHA	1	217	346	4823	141800
HP:0000252	HP:0000252	Microcephaly	0	HBA2 CL E G H	3040	98791				ORPHA	1	296	274	4824	141850
HP:0000252	HP:0000252	Microcephaly	0	HCCS CL E G H	3052	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	14	201	4837	300056
HP:0000252	HP:0000252	Microcephaly	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	18	486	4839	300019
HP:0000252	HP:0000252	Microcephaly	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	16	223	14063	605314
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	227	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	56	227	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	4	48	18270	605743
HP:0000252	HP:0000252	Microcephaly	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	186	5004	300193
HP:0000252	HP:0000252	Microcephaly	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	4	35	5028	605238
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	238769				ORPHA	1	68	321	5048	602869
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	68	321	5048	602869
HP:0000252	HP:0000252	Microcephaly	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1	15		5330	600709
HP:0000252	HP:0000252	Microcephaly	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	113	27302	615316
HP:0000252	HP:0000252	Microcephaly	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	4	83	18550	609382
HP:0000252	HP:0000252	Microcephaly	0	IFIH1 CL E G H	64135	51				ORPHA	1	28	286	18873	606951
HP:0000252	HP:0000252	Microcephaly	0	IFT74 CL E G H	80173	617119	Bardet-Biedl syndrome 20	617119	C4310707	OMIM	1	4	100	21424	608040
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	73272				ORPHA	1	13	167	5464	147440
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	13	167	5464	147440
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	73273				ORPHA	1	79	622	5465	147370
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	79	622	5465	147370
HP:0000252	HP:0000252	Microcephaly	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	151	295	5961	300248
HP:0000252	HP:0000252	Microcephaly	0	ITGA3 CL E G H	3675	614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	614748	C3553636	OMIM	1	11	60	6139	605025
HP:0000252	HP:0000252	Microcephaly	0	ITGB6 CL E G H	3694	2850				ORPHA	1	7	60	6161	147558
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	457193				ORPHA	1	29	219	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	29	219	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	3047				ORPHA	1	76	228	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	85201				ORPHA	1	76	228	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	76	228	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	76	228	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KATNB1 CL E G H	10300	616212	Lissencephaly 6, with microcephaly	616212	C4015525	OMIM	1	11	73	6217	602703
HP:0000252	HP:0000252	Microcephaly	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	5	85	6229	601142
HP:0000252	HP:0000252	Microcephaly	0	KCNJ11 CL E G H	3767	276580				ORPHA	1	187	227	6257	600937
HP:0000252	HP:0000252	Microcephaly	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	94	343	6263	600681
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	3	84	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	614098	Keppen-Lubinsky syndrome	614098	C3279800	OMIM	1	3	84	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	43	978	18865	608167
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	2322				ORPHA	1	81	311	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	311	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDSR CL E G H	2531	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	10	89	4021	136440
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	2526				ORPHA	1	70	172	6388	148760
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	1	70	172	6388	148760
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	2512				ORPHA	1	16	77	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	616258	Meckel syndrome 12	616258	C4015701	OMIM	1	16	77	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	2836				ORPHA	1	43	1059	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	43	1059	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1BP CL E G H	26128	66629				ORPHA	1	10		23419	609367
HP:0000252	HP:0000252	Microcephaly	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1	10		23419	609367
HP:0000252	HP:0000252	Microcephaly	0	KIF1C CL E G H	10749	397946				ORPHA	1	17	197	6317	603060
HP:0000252	HP:0000252	Microcephaly	0	KIF2A CL E G H	3796	615411	Cortical dysplasia, complex, with other brain malformations 3	615411	C3809414	OMIM	1	7	100	6318	602591
HP:0000252	HP:0000252	Microcephaly	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	69	249	6323	602821
HP:0000252	HP:0000252	Microcephaly	0	KIF5C CL E G H	3800	615282	Cortical dysplasia, complex, with other brain malformations 2	615282	C3809013	OMIM	1	6	76	6325	604593
HP:0000252	HP:0000252	Microcephaly	0	KLHL7 CL E G H	55975	97297				ORPHA	1	14	127	15646	611119
HP:0000252	HP:0000252	Microcephaly	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	379	7132	159555
HP:0000252	HP:0000252	Microcephaly	0	KMT2D CL E G H	8085	2322				ORPHA	1	712	1350	7133	602113
HP:0000252	HP:0000252	Microcephaly	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1350	7133	602113
HP:0000252	HP:0000252	Microcephaly	0	KNL1 CL E G H	57082	2512				ORPHA	1	6	216	24054	609173
HP:0000252	HP:0000252	Microcephaly	0	KNL1 CL E G H	57082	604321	Primary autosomal recessive microcephaly 4	604321	C1858516	OMIM	1	6	216	24054	609173
HP:0000252	HP:0000252	Microcephaly	0	KYNU CL E G H	8942	617661	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	617661	C4540014	OMIM	1	8	41	6469	605197
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	1497	Congenital mixovirus			ORPHA	1	293	519	6470	308840
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	304100	Corpus callosum, partial agenesis of, X-linked	304100	C1839909	OMIM	1	293	519	6470	308840
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	293	519	6470	308840
HP:0000252	HP:0000252	Microcephaly	0	LAGE3 CL E G H	8270	2065				ORPHA	1	3	219	26058	300060
HP:0000252	HP:0000252	Microcephaly	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	406	6511	603590
HP:0000252	HP:0000252	Microcephaly	0	LARP7 CL E G H	51574	615071	Alazami syndrome	615071	C3554439	OMIM	1	11	65	24912	612026
HP:0000252	HP:0000252	Microcephaly	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1	7		6512	151350
HP:0000252	HP:0000252	Microcephaly	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0000252	HP:0000252	Microcephaly	0	LEMD3 CL E G H	23592	166119				ORPHA	1	34	138	28887	607844
HP:0000252	HP:0000252	Microcephaly	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	4	175	6556	604407
HP:0000252	HP:0000252	Microcephaly	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	175	6556	604407
HP:0000252	HP:0000252	Microcephaly	0	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	8	179	16429	607031
HP:0000252	HP:0000252	Microcephaly	0	LIG4 CL E G H	3981	235				ORPHA	1	40	317	6601	601837
HP:0000252	HP:0000252	Microcephaly	0	LIG4 CL E G H	3981	99812				ORPHA	1	40	317	6601	601837
HP:0000252	HP:0000252	Microcephaly	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	193	6613	601329
HP:0000252	HP:0000252	Microcephaly	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	221	411	6697	603506
HP:0000252	HP:0000252	Microcephaly	0	LTC4S CL E G H	4056	614037	Leukotriene c4 synthase deficiency	614037	C3279662	OMIM	1	6	46	6719	246530
HP:0000252	HP:0000252	Microcephaly	0	MAD2L2 CL E G H	10459	84				ORPHA	1	1	54	6764	604094
HP:0000252	HP:0000252	Microcephaly	0	MAD2L2 CL E G H	10459	617243	Fanconi anemia, complementation group V	617243	C4310652	OMIM	1	1	54	6764	604094
HP:0000252	HP:0000252	Microcephaly	0	MAPK1 CL E G H	5594	261330				ORPHA	1	3	112	6871	176948
HP:0000252	HP:0000252	Microcephaly	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	122	6901	600521
HP:0000252	HP:0000252	Microcephaly	0	MBD5 CL E G H	55777	228402				ORPHA	1	91	664	20444	611472
HP:0000252	HP:0000252	Microcephaly	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	664	20444	611472
HP:0000252	HP:0000252	Microcephaly	0	MBTPS2 CL E G H	51360	85284				ORPHA	1	26	207	15455	300294
HP:0000252	HP:0000252	Microcephaly	0	MBTPS2 CL E G H	51360	308205	IFAP syndrome with or without BRESHECK syndrome	308205	C1839988	OMIM	1	26	207	15455	300294
HP:0000252	HP:0000252	Microcephaly	0	MCM4 CL E G H	4173	609981	Natural killer cell and glucocorticoid deficiency with DNA repair defect	609981	C1864947	OMIM	1	5	171	6947	602638
HP:0000252	HP:0000252	Microcephaly	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	36	228	13356	605248
HP:0000252	HP:0000252	Microcephaly	0	MCPH1 CL E G H	79648	2512				ORPHA	1	35	403	6954	607117
HP:0000252	HP:0000252	Microcephaly	0	MCPH1 CL E G H	79648	251200	Primary autosomal recessive microcephaly 1	251200	C1855081	OMIM	1	35	403	6954	607117
HP:0000252	HP:0000252	Microcephaly	0	MCTP2 CL E G H	55784	1596				ORPHA	1	9	101	25636	616297
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	778				ORPHA	1	1050	1442	6990	300005
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	3095				ORPHA	1	1050	1442	6990	300005
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1050	1442	6990	300005
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1050	1442	6990	300005
HP:0000252	HP:0000252	Microcephaly	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	5	297	28845	610197
HP:0000252	HP:0000252	Microcephaly	0	MEIS2 CL E G H	4212	261190				ORPHA	1	23	57	7001	601740
HP:0000252	HP:0000252	Microcephaly	0	MEIS2 CL E G H	4212	600987	Cleft palate, cardiac defects, and mental retardation	600987	C1832950	OMIM	1	23	57	7001	601740
HP:0000252	HP:0000252	Microcephaly	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	4	64	24858	614785
HP:0000252	HP:0000252	Microcephaly	0	MFSD2A CL E G H	84879	2512				ORPHA	1	6	33	25897	614397
HP:0000252	HP:0000252	Microcephaly	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	5	107	7045	602616
HP:0000252	HP:0000252	Microcephaly	0	MIR17HG CL E G H	407975	614326	Feingold syndrome 2	614326	C3280489	OMIM	1	9	72	23564	609415
HP:0000252	HP:0000252	Microcephaly	0	MKS1 CL E G H	54903	564				ORPHA	1	52	334	7121	609883
HP:0000252	HP:0000252	Microcephaly	0	MKS1 CL E G H	54903	249000	Meckel syndrome type 1	249000	C3714506	OMIM	1	52	334	7121	609883
HP:0000252	HP:0000252	Microcephaly	0	MMACHC CL E G H	25974	79282				ORPHA	1	95	274	24525	609831
HP:0000252	HP:0000252	Microcephaly	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	95	274	24525	609831
HP:0000252	HP:0000252	Microcephaly	0	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	35	181	7190	603707
HP:0000252	HP:0000252	Microcephaly	0	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	16	118	7193	603708
HP:0000252	HP:0000252	Microcephaly	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	7	85	7207	604041
HP:0000252	HP:0000252	Microcephaly	0	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	19	50	16002	609188
HP:0000252	HP:0000252	Microcephaly	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	9	84	14508	605810
HP:0000252	HP:0000252	Microcephaly	0	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	4	48	10545	607545
HP:0000252	HP:0000252	Microcephaly	0	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	133	261	7436	607093
HP:0000252	HP:0000252	Microcephaly	0	MVK CL E G H	4598	29				ORPHA	1	183	277	7530	251170
HP:0000252	HP:0000252	Microcephaly	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	183	277	7530	251170
HP:0000252	HP:0000252	Microcephaly	0	MYCN CL E G H	4613	164280	Feingold syndrome 1	164280	C0796068	OMIM	1	46	103	7559	164840
HP:0000252	HP:0000252	Microcephaly	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	45	315	7573	160720
HP:0000252	HP:0000252	Microcephaly	0	MYMK CL E G H	389827	1358				ORPHA	1	7	57	33778	615345
HP:0000252	HP:0000252	Microcephaly	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	7	57	33778	615345
HP:0000252	HP:0000252	Microcephaly	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	6	138	18150	607295
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	568	Aggressive fibromatosis			ORPHA	1	10	296	18704	300013
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	296	18704	300013
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	10	296	18704	300013
HP:0000252	HP:0000252	Microcephaly	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	3	55	20967	610672
HP:0000252	HP:0000252	Microcephaly	0	NADK2 CL E G H	133686	431361				ORPHA	1	3	70	26404	615787
HP:0000252	HP:0000252	Microcephaly	0	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	3	70	26404	615787
HP:0000252	HP:0000252	Microcephaly	0	NALCN CL E G H	259232	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	615419	C3809454	OMIM	1	65	247	19082	611549
HP:0000252	HP:0000252	Microcephaly	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	61	19237	605202
HP:0000252	HP:0000252	Microcephaly	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	14	96	26274	612803
HP:0000252	HP:0000252	Microcephaly	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	1	139	26742	610647
HP:0000252	HP:0000252	Microcephaly	0	NBN CL E G H	4683	647				ORPHA	1	148	2045	7652	602667
HP:0000252	HP:0000252	Microcephaly	0	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	148	2045	7652	602667
HP:0000252	HP:0000252	Microcephaly	0	NCAPD3 CL E G H	23310	2512				ORPHA	1	5	121	28952	609276
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	614019	Lissencephaly 4	614019	C3151461	OMIM	1	20	1161	17619	609449
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	605013	Microhydranencephaly	605013	C1857977	OMIM	1	20	1161	17619	609449
HP:0000252	HP:0000252	Microcephaly	0	NDUFB11 CL E G H	54539	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	6	163	20372	300403
HP:0000252	HP:0000252	Microcephaly	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	4	167	12768	606026
HP:0000252	HP:0000252	Microcephaly	0	NF1 CL E G H	4763	139474				ORPHA	1	3011	6491	7765	613113
HP:0000252	HP:0000252	Microcephaly	0	NHEJ1 CL E G H	79840	169079				ORPHA	1	16	75	25737	611290
HP:0000252	HP:0000252	Microcephaly	0	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	3	92	14377	606470
HP:0000252	HP:0000252	Microcephaly	0	NIN CL E G H	51199	614851	Seckel syndrome 7	614851	C3553870	OMIM	1	8	133	14906	608684
HP:0000252	HP:0000252	Microcephaly	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	809	28862	608667
HP:0000252	HP:0000252	Microcephaly	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	809	28862	608667
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	280200				ORPHA	1	25	101	7865	601265
HP:0000252	HP:0000252	Microcephaly	0	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	1	60	14378	606471
HP:0000252	HP:0000252	Microcephaly	0	NSD1 CL E G H	64324	228415				ORPHA	1	525	896	14234	606681
HP:0000252	HP:0000252	Microcephaly	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	14	220	12766	602952
HP:0000252	HP:0000252	Microcephaly	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	14	220	12766	602952
HP:0000252	HP:0000252	Microcephaly	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	31	256	13398	300275
HP:0000252	HP:0000252	Microcephaly	0	NSMCE2 CL E G H	286053	617253	Seckel syndrome 10	617253	C4310647	OMIM	1	2	57	26513	617246
HP:0000252	HP:0000252	Microcephaly	0	NSUN2 CL E G H	54888	235				ORPHA	1	7	260	25994	610916
HP:0000252	HP:0000252	Microcephaly	0	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	1	7	260	25994	610916
HP:0000252	HP:0000252	Microcephaly	0	NTNG1 CL E G H	22854	3095				ORPHA	1	4	30	23319	608818
HP:0000252	HP:0000252	Microcephaly	0	NUP107 CL E G H	57122	2065				ORPHA	1	12	40	29914	607617
HP:0000252	HP:0000252	Microcephaly	0	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	22	57	21042	610463
HP:0000252	HP:0000252	Microcephaly	0	OCLN CL E G H	100506658	1229				ORPHA	1	20	61	8104	602876
HP:0000252	HP:0000252	Microcephaly	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	20	61	8104	602876
HP:0000252	HP:0000252	Microcephaly	0	OFD1 CL E G H	8481	311200	Oral-facial-digital syndrome	311200	C1510460	OMIM	1	162	510	2567	300170
HP:0000252	HP:0000252	Microcephaly	0	ORC1 CL E G H	4998	2554				ORPHA	1	12	103	8487	601902
HP:0000252	HP:0000252	Microcephaly	0	ORC1 CL E G H	4998	224690	Meier-Gorlin syndrome 1	224690	CN030358	OMIM	1	12	103	8487	601902
HP:0000252	HP:0000252	Microcephaly	0	ORC4 CL E G H	5000	2554				ORPHA	1	6	87	8490	603056
HP:0000252	HP:0000252	Microcephaly	0	ORC4 CL E G H	5000	613800	Meier-Gorlin syndrome 2	613800	C3151097	OMIM	1	6	87	8490	603056
HP:0000252	HP:0000252	Microcephaly	0	ORC6 CL E G H	23594	2554				ORPHA	1	6	90	17151	607213
HP:0000252	HP:0000252	Microcephaly	0	ORC6 CL E G H	23594	613803	Meier-Gorlin syndrome 3	613803	C3151113	OMIM	1	6	90	17151	607213
HP:0000252	HP:0000252	Microcephaly	0	OSGEP CL E G H	55644	2065				ORPHA	1	17	46	18028	610107
HP:0000252	HP:0000252	Microcephaly	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	9	129	21652	607649
HP:0000252	HP:0000252	Microcephaly	0	OTUD6B CL E G H	51633	505237				ORPHA	1	6	47	24281	612021
HP:0000252	HP:0000252	Microcephaly	0	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	6	47	24281	612021
HP:0000252	HP:0000252	Microcephaly	0	PAH CL E G H	5053	79254				ORPHA	1	980	920	8582	612349
HP:0000252	HP:0000252	Microcephaly	0	PAH CL E G H	5053	2209	Exsudative retinopathy familial, autosomal recessive			ORPHA	1	980	920	8582	612349
HP:0000252	HP:0000252	Microcephaly	0	PAH CL E G H	5053	261600	Phenylketonuria	261600	C0031485	OMIM	1	980	920	8582	612349
HP:0000252	HP:0000252	Microcephaly	0	PAK3 CL E G H	5063	300558	Mental retardation 30, X-linked	300558	C0796237	OMIM	1	14	228	8592	300142
HP:0000252	HP:0000252	Microcephaly	0	PALB2 CL E G H	79728	84				ORPHA	1	417	3503	26144	610355
HP:0000252	HP:0000252	Microcephaly	0	PALB2 CL E G H	79728	610832	Fanconi anemia, complementation group N	610832	C1835817	OMIM	1	417	3503	26144	610355
HP:0000252	HP:0000252	Microcephaly	0	PARN CL E G H	5073	3322				ORPHA	1	29	166	8609	604212
HP:0000252	HP:0000252	Microcephaly	0	PARN CL E G H	5073	616353	Dyskeratosis congenita, autosomal recessive 6	616353	C4225356	OMIM	1	29	166	8609	604212
HP:0000252	HP:0000252	Microcephaly	0	PAX3 CL E G H	5077	896				ORPHA	1	153	181	8617	606597
HP:0000252	HP:0000252	Microcephaly	0	PAX3 CL E G H	5077	148820	Klein-Waardenberg's syndrome	148820	C0342680	OMIM	1	153	181	8617	606597
HP:0000252	HP:0000252	Microcephaly	0	PAX6 CL E G H	5080	893				ORPHA	1	571	496	8620	607108
HP:0000252	HP:0000252	Microcephaly	0	PCDH12 CL E G H	51294	251280	Microcephaly with spastic quadriplegia	251280	C1855055	OMIM	1	6	56	8657	605622
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	88	885	16068	605925
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	1	88	885	16068	605925
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	210720	Microcephalic osteodysplastic primordial dwarfism type 2	210720	C0432246	OMIM	1	88	885	16068	605925
HP:0000252	HP:0000252	Microcephaly	0	PDGFB CL E G H	5155	1980				ORPHA	1	23	44	8800	190040
HP:0000252	HP:0000252	Microcephaly	0	PDGFRB CL E G H	5159	1980				ORPHA	1	24	150	8804	173410
HP:0000252	HP:0000252	Microcephaly	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	408	8806	300502
HP:0000252	HP:0000252	Microcephaly	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	22	186	21350	608769
HP:0000252	HP:0000252	Microcephaly	0	PEX1 CL E G H	5189	912				ORPHA	1	140	489	8850	602136
HP:0000252	HP:0000252	Microcephaly	0	PEX10 CL E G H	5192	912				ORPHA	1	32	347	8851	602859
HP:0000252	HP:0000252	Microcephaly	0	PEX11B CL E G H	8799	912				ORPHA	1	8	247	8853	603867
HP:0000252	HP:0000252	Microcephaly	0	PEX12 CL E G H	5193	912				ORPHA	1	37	181	8854	601758
HP:0000252	HP:0000252	Microcephaly	0	PEX13 CL E G H	5194	912				ORPHA	1	10	196	8855	601789
HP:0000252	HP:0000252	Microcephaly	0	PEX14 CL E G H	5195	912				ORPHA	1	5	176	8856	601791
HP:0000252	HP:0000252	Microcephaly	0	PEX16 CL E G H	9409	912				ORPHA	1	15	149	8857	603360
HP:0000252	HP:0000252	Microcephaly	0	PEX19 CL E G H	5824	912				ORPHA	1	4	133	9713	600279
HP:0000252	HP:0000252	Microcephaly	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0000252	HP:0000252	Microcephaly	0	PEX2 CL E G H	5828	912				ORPHA	1	18	208	9717	170993
HP:0000252	HP:0000252	Microcephaly	0	PEX26 CL E G H	55670	912				ORPHA	1	27	277	22965	608666
HP:0000252	HP:0000252	Microcephaly	0	PEX3 CL E G H	8504	912				ORPHA	1	10	116	8858	603164
HP:0000252	HP:0000252	Microcephaly	0	PEX5 CL E G H	5830	912				ORPHA	1	14	280	9719	600414
HP:0000252	HP:0000252	Microcephaly	0	PEX5 CL E G H	5830	616716	Rhizomelic chondrodysplasia punctata type 5	616716	C4225237	OMIM	1	14	280	9719	600414
HP:0000252	HP:0000252	Microcephaly	0	PEX6 CL E G H	5190	912				ORPHA	1	109	375	8859	601498
HP:0000252	HP:0000252	Microcephaly	0	PEX7 CL E G H	5191	215100	Rhizomelic chondrodysplasia punctata type 1	215100	C1859133	OMIM	1	53	187	8860	601757
HP:0000252	HP:0000252	Microcephaly	0	PGAP1 CL E G H	80055	615802	Mental retardation, autosomal recessive 42	615802	C4014343	OMIM	1	12	105	25712	611655
HP:0000252	HP:0000252	Microcephaly	0	PHC1 CL E G H	1911	2512				ORPHA	1	1	55	3182	602978
HP:0000252	HP:0000252	Microcephaly	0	PHC1 CL E G H	1911	615414	Primary autosomal recessive microcephaly 11	615414	C3809431	OMIM	1	1	55	3182	602978
HP:0000252	HP:0000252	Microcephaly	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	235	18145	300414
HP:0000252	HP:0000252	Microcephaly	0	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	23	145	8923	606879
HP:0000252	HP:0000252	Microcephaly	0	PHGDH CL E G H	26227	256520	Neu-Laxova syndrome 1	256520	CN032230	OMIM	1	23	145	8923	606879
HP:0000252	HP:0000252	Microcephaly	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	32	329	26270	613629
HP:0000252	HP:0000252	Microcephaly	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	32	329	26270	613629
HP:0000252	HP:0000252	Microcephaly	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	23	28213	610662
HP:0000252	HP:0000252	Microcephaly	0	PLAA CL E G H	9373	521426				ORPHA	1	3	84	9043	603873
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	2518				ORPHA	1	6	94	11397	605031
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	808	Baker Vinters syndrome			ORPHA	1	6	94	11397	605031
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	6	94	11397	605031
HP:0000252	HP:0000252	Microcephaly	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	352	300	9086	300401
HP:0000252	HP:0000252	Microcephaly	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	363	9115	601785
HP:0000252	HP:0000252	Microcephaly	0	POC1A CL E G H	25886	614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	614813	C3542022	OMIM	1	8	36	24488	614783
HP:0000252	HP:0000252	Microcephaly	0	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	54	227	18801	614787
HP:0000252	HP:0000252	Microcephaly	0	POLG CL E G H	5428	726				ORPHA	1	300	1196	9179	174763
HP:0000252	HP:0000252	Microcephaly	0	POLR1A CL E G H	25885	616462	Acrofacial dysostosis, Cincinnati type	616462	C4225317	OMIM	1	5	93	17264	616404
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	89	461	19139	606822
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	89	461	19139	606822
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	86812				ORPHA	1	96	508	9202	607423
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	96	508	9202	607423
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	96	508	9202	607423
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	96	508	9202	607423
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	75	502	19743	607439
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	75	502	19743	607439
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	75	502	19743	607439
HP:0000252	HP:0000252	Microcephaly	0	POR CL E G H	5447	201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750	C1860042	OMIM	1	92	225	9208	124015
HP:0000252	HP:0000252	Microcephaly	0	PORCN CL E G H	64840	305600	Focal dermal hypoplasia	305600	C0016395	OMIM	1	121	210	17652	300651
HP:0000252	HP:0000252	Microcephaly	0	PPP1R15B CL E G H	84919	616817	Microcephaly, short stature, and impaired glucose metabolism 2	616817	C4225195	OMIM	1	5	34	14951	613257
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	93947				ORPHA	1	22	228	9330	300463
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	93946				ORPHA	1	22	228	9330	300463
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	309500	Renpenning syndrome 1	309500	C0796135	OMIM	1	22	228	9330	300463
HP:0000252	HP:0000252	Microcephaly	0	PRDM16 CL E G H	63976	1606				ORPHA	1	21	677	14000	605557
HP:0000252	HP:0000252	Microcephaly	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	3	22	9352	176763
HP:0000252	HP:0000252	Microcephaly	0	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	8	65	9407	605435
HP:0000252	HP:0000252	Microcephaly	0	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	1	11	574	9413	600899
HP:0000252	HP:0000252	Microcephaly	0	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	11	73	25557	610087
HP:0000252	HP:0000252	Microcephaly	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	10	27	13420	617413
HP:0000252	HP:0000252	Microcephaly	0	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	10	323	19129	610936
HP:0000252	HP:0000252	Microcephaly	0	PSAT1 CL E G H	29968	616038	Neu-laxova syndrome 2	616038	C4015019	OMIM	1	10	323	19129	610936
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	280200				ORPHA	1	529	2031	9585	601309
HP:0000252	HP:0000252	Microcephaly	0	PTF1A CL E G H	256297	609069	Diabetes mellitus, permanent neonatal, with cerebellar agenesis	609069	C1836780	OMIM	1	16	67	23734	607194
HP:0000252	HP:0000252	Microcephaly	0	PTS CL E G H	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	261640	C0878676	OMIM	1	112	98	9689	612719
HP:0000252	HP:0000252	Microcephaly	0	PUF60 CL E G H	22827	615583	Verheij syndrome	615583	C3810023	OMIM	1	32	129	17042	604819
HP:0000252	HP:0000252	Microcephaly	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	9	161	15508	608109
HP:0000252	HP:0000252	Microcephaly	0	PUS1 CL E G H	80324	600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462	C1838103	OMIM	1	9	161	15508	608109
HP:0000252	HP:0000252	Microcephaly	0	PUS3 CL E G H	83480	617051	Mental retardation, autosomal recessive 55	617051	C4310745	OMIM	1	1	110	25461	616283
HP:0000252	HP:0000252	Microcephaly	0	PYCR1 CL E G H	5831	612940	Autosomal recessive cutis laxa type 2B	612940	C2751987	OMIM	1	41	144	9721	179035
HP:0000252	HP:0000252	Microcephaly	0	PYCR2 CL E G H	29920	2512				ORPHA	1	13	63	30262	616406
HP:0000252	HP:0000252	Microcephaly	0	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1	10		9751	603727
HP:0000252	HP:0000252	Microcephaly	0	QDPR CL E G H	5860	226				ORPHA	1	67	125	9752	612676
HP:0000252	HP:0000252	Microcephaly	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	67	125	9752	612676
HP:0000252	HP:0000252	Microcephaly	0	RAB18 CL E G H	22931	2510				ORPHA	1	5	154	14244	602207
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	67	193	17063	602536
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	67	193	17063	602536
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	67	193	17063	602536
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	16	294	17168	609275
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	1387	Cleft palate cardiac defect ectrodactyly			ORPHA	1	16	294	17168	609275
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	212720	Martsolf syndrome	212720	C0796037	OMIM	1	16	294	17168	609275
HP:0000252	HP:0000252	Microcephaly	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	149	9811	606462
HP:0000252	HP:0000252	Microcephaly	0	RAD21 CL E G H	5885	614701	Cornelia de Lange syndrome 4	614701	C3553517	OMIM	1	13	149	9811	606462
HP:0000252	HP:0000252	Microcephaly	0	RAD50 CL E G H	10111	613078	Nijmegen breakage syndrome-like disorder	613078	C2751318	OMIM	1	95	2206	9816	604040
HP:0000252	HP:0000252	Microcephaly	0	RAD51 CL E G H	5888	84				ORPHA	1	16	36	9817	179617
HP:0000252	HP:0000252	Microcephaly	0	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	16	36	9817	179617
HP:0000252	HP:0000252	Microcephaly	0	RAD51C CL E G H	5889	84				ORPHA	1	131	1130	9820	602774
HP:0000252	HP:0000252	Microcephaly	0	RAP1A CL E G H	5906	2322				ORPHA	1	2	20	9855	179520
HP:0000252	HP:0000252	Microcephaly	0	RAP1B CL E G H	5908	2322				ORPHA	1	1	19	9857	179530
HP:0000252	HP:0000252	Microcephaly	0	RARS CL E G H	5917	616140	Leukodystrophy, hypomyelinating, 9	616140	C4015323	OMIM	1	11		9870	107820
HP:0000252	HP:0000252	Microcephaly	0	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	1113	1195	9884	614041
HP:0000252	HP:0000252	Microcephaly	0	RBBP8 CL E G H	5932	808	Baker Vinters syndrome			ORPHA	1	6	108	9891	604124
HP:0000252	HP:0000252	Microcephaly	0	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	6	108	9891	604124
HP:0000252	HP:0000252	Microcephaly	0	RBM28 CL E G H	55131	612079	Alopecia, neurologic defects, and endocrinopathy syndrome	612079	C2677535	OMIM	1	1	50	21863	612074
HP:0000252	HP:0000252	Microcephaly	0	RBPJ CL E G H	3516	614814	Adams-Oliver syndrome 3	614814	C3553748	OMIM	1	10	73	5724	147183
HP:0000252	HP:0000252	Microcephaly	0	RELN CL E G H	5649	257320	Lissencephaly 2	257320	C0796089	OMIM	1	61	1111	9957	600514
HP:0000252	HP:0000252	Microcephaly	0	REN CL E G H	5972	267430	Renal dysplasia	267430	C3536714	OMIM	1	21	59	9958	179820
HP:0000252	HP:0000252	Microcephaly	0	RERE CL E G H	473	1606				ORPHA	1	25	161	9965	605226
HP:0000252	HP:0000252	Microcephaly	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	173	9970	600404
HP:0000252	HP:0000252	Microcephaly	0	RFT1 CL E G H	91869	244310				ORPHA	1	13	179	30220	611908
HP:0000252	HP:0000252	Microcephaly	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	13	179	30220	611908
HP:0000252	HP:0000252	Microcephaly	0	RFWD3 CL E G H	55159	84				ORPHA	1	2	49	25539	614151
HP:0000252	HP:0000252	Microcephaly	0	RIPK4 CL E G H	54101	1234	Chang Davidson Carlson syndrome			ORPHA	1	16	222	496	605706
HP:0000252	HP:0000252	Microcephaly	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2A CL E G H	10535	51				ORPHA	1	21	133	18518	606034
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2B CL E G H	79621	51				ORPHA	1	42	149	25671	610326
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2C CL E G H	84153	51				ORPHA	1	15	112	24116	610330
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	1824	Devriendt Legius Fryns syndrome			ORPHA	1	24	56	34016	601428
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	24	56	34016	601428
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	210710	Osteodysplastic primordial dwarfism, type 1	210710	C1859452	OMIM	1	24	56	34016	601428
HP:0000252	HP:0000252	Microcephaly	0	RPGRIP1 CL E G H	57096	564				ORPHA	1	149	361	13436	605446
HP:0000252	HP:0000252	Microcephaly	0	RPGRIP1L CL E G H	23322	564				ORPHA	1	51	432	29168	610937
HP:0000252	HP:0000252	Microcephaly	0	RPL10 CL E G H	6134	435938				ORPHA	1	6	242	10298	312173
HP:0000252	HP:0000252	Microcephaly	0	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	175	96	10402	603474
HP:0000252	HP:0000252	Microcephaly	0	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	2	13	10410	603683
HP:0000252	HP:0000252	Microcephaly	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	171	309	10432	300075
HP:0000252	HP:0000252	Microcephaly	0	RPS6KA3 CL E G H	6197	192	Karandikar Maria Kamble syndrome			ORPHA	1	171	309	10432	300075
HP:0000252	HP:0000252	Microcephaly	0	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	4	39	29420	616585
HP:0000252	HP:0000252	Microcephaly	0	RTEL1 CL E G H	51750	3322				ORPHA	1	54	684	15888	608833
HP:0000252	HP:0000252	Microcephaly	0	RTEL1 CL E G H	51750	615190	Dyskeratosis congenita, autosomal recessive, 5	615190	C3554656	OMIM	1	54	684	15888	608833
HP:0000252	HP:0000252	Microcephaly	0	SALL1 CL E G H	6299	107480	Townes-Brocks syndrome 1	107480	CN034849	OMIM	1	88	182	10524	602218
HP:0000252	HP:0000252	Microcephaly	0	SAMHD1 CL E G H	25939	51				ORPHA	1	57	200	15925	606754
HP:0000252	HP:0000252	Microcephaly	0	SASS6 CL E G H	163786	2512				ORPHA	1	3	43	25403	609321
HP:0000252	HP:0000252	Microcephaly	0	SASS6 CL E G H	163786	616402	Primary autosomal recessive microcephaly 14	616402	C4225338	OMIM	1	3	43	25403	609321
HP:0000252	HP:0000252	Microcephaly	0	SATB2 CL E G H	23314	612313	Chromosome 2q32-q33 deletion syndrome	612313	C2676739	OMIM	1	106	274	21637	608148
HP:0000252	HP:0000252	Microcephaly	0	SBF1 CL E G H	6305	615284	Charcot-Marie-Tooth disease, type 4B3	615284	C3695063	OMIM	1	14	303	10542	603560
HP:0000252	HP:0000252	Microcephaly	0	SC5D CL E G H	6309	46059				ORPHA	1	6	182	10547	602286
HP:0000252	HP:0000252	Microcephaly	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	4	160	10727	608166
HP:0000252	HP:0000252	Microcephaly	0	SEMA5A CL E G H	9037	281	Ramer Ladda syndrome			ORPHA	1	8	174	10736	609297
HP:0000252	HP:0000252	Microcephaly	0	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	7	72	10760	600960
HP:0000252	HP:0000252	Microcephaly	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	236	25566	615743
HP:0000252	HP:0000252	Microcephaly	0	SF3B4 CL E G H	10262	154400	Nager syndrome	154400	C0265245	OMIM	1	38	58	10771	605593
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	280200				ORPHA	1	221	210	10848	600725
HP:0000252	HP:0000252	Microcephaly	0	SHROOM4 CL E G H	57477	300434	Stocco dos Santos syndrome	300434	C1845530	OMIM	1	9	228	29215	300579
HP:0000252	HP:0000252	Microcephaly	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	49	167	24624	608005
HP:0000252	HP:0000252	Microcephaly	0	SIN3A CL E G H	25942	94065				ORPHA	1	16	116	19353	607776
HP:0000252	HP:0000252	Microcephaly	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	280200				ORPHA	1	91	90	10889	603714
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	91	90	10889	603714
HP:0000252	HP:0000252	Microcephaly	0	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	11	59	10892	606326
HP:0000252	HP:0000252	Microcephaly	0	SKI CL E G H	6497	1606				ORPHA	1	24	502	10896	164780
HP:0000252	HP:0000252	Microcephaly	0	SLC12A6 CL E G H	9990	1496	Congenital mitral stenosis			ORPHA	1	20	387	10914	604878
HP:0000252	HP:0000252	Microcephaly	0	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	21	312	23089	608305
HP:0000252	HP:0000252	Microcephaly	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	88	257	10923	300095
HP:0000252	HP:0000252	Microcephaly	0	SLC20A2 CL E G H	6575	1980				ORPHA	1	89	182	10947	158378
HP:0000252	HP:0000252	Microcephaly	0	SLC25A19 CL E G H	60386	99742				ORPHA	1	8	93	14409	606521
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	608885	Stomatin-deficient cryohydrocytosis with neurologic defects	608885	C1837206	OMIM	1	281	516	11005	138140
HP:0000252	HP:0000252	Microcephaly	0	SLC35A1 CL E G H	10559	603585	Congenital disorder of glycosylation type 2F	603585	C1970344	OMIM	1	5	70	11021	605634
HP:0000252	HP:0000252	Microcephaly	0	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	18	273	11022	314375
HP:0000252	HP:0000252	Microcephaly	0	SLC35A3 CL E G H	23443	615553	Arthrogryposis, mental retardation, and seizures	615553	C3809910	OMIM	1	5	79	11023	605632
HP:0000252	HP:0000252	Microcephaly	0	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	1	7	163	20197	605881
HP:0000252	HP:0000252	Microcephaly	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	139	542	11055	300036
HP:0000252	HP:0000252	Microcephaly	0	SLC9A6 CL E G H	10479	85278				ORPHA	1	28	351	11079	300231
HP:0000252	HP:0000252	Microcephaly	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	28	351	11079	300231
HP:0000252	HP:0000252	Microcephaly	0	SLX4 CL E G H	84464	84				ORPHA	1	72	818	23845	613278
HP:0000252	HP:0000252	Microcephaly	0	SMAD4 CL E G H	4089	139210	Myhre syndrome	139210	C0796081	OMIM	1	147	1257	6770	600993
HP:0000252	HP:0000252	Microcephaly	0	SMARCA2 CL E G H	6595	3051				ORPHA	1	78	445	11098	600014
HP:0000252	HP:0000252	Microcephaly	0	SMARCA2 CL E G H	6595	601358	Nicolaides-Baraitser syndrome	601358	C1303073	OMIM	1	78	445	11098	600014
HP:0000252	HP:0000252	Microcephaly	0	SMARCA4 CL E G H	6597	1465				ORPHA	1	57	2473	11100	603254
HP:0000252	HP:0000252	Microcephaly	0	SMARCB1 CL E G H	6598	1465				ORPHA	1	119	482	11103	601607
HP:0000252	HP:0000252	Microcephaly	0	SMARCE1 CL E G H	6605	1465				ORPHA	1	13	287	11109	603111
HP:0000252	HP:0000252	Microcephaly	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	13	287	11109	603111
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	484	11111	300040
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	484	11111	300040
HP:0000252	HP:0000252	Microcephaly	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	213	2468	606062
HP:0000252	HP:0000252	Microcephaly	0	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	29	25763	613176
HP:0000252	HP:0000252	Microcephaly	0	SNAP29 CL E G H	9342	66631				ORPHA	1	13	527	11133	604202
HP:0000252	HP:0000252	Microcephaly	0	SNRPB CL E G H	6628	117650	Cerebro-costo-mandibular syndrome	117650	C0265342	OMIM	1	7	43	11153	182282
HP:0000252	HP:0000252	Microcephaly	0	SOX11 CL E G H	6664	1465				ORPHA	1	14	70	11191	600898
HP:0000252	HP:0000252	Microcephaly	0	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	14	70	11191	600898
HP:0000252	HP:0000252	Microcephaly	0	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	105	105	11195	184429
HP:0000252	HP:0000252	Microcephaly	0	SP110 CL E G H	3431	235550	Hepatic venoocclusive disease with immunodeficiency	235550	C1856128	OMIM	1	12	187	5401	604457
HP:0000252	HP:0000252	Microcephaly	0	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	1	28	286	18119	613940
HP:0000252	HP:0000252	Microcephaly	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	100	11257	182125
HP:0000252	HP:0000252	Microcephaly	0	SSR4 CL E G H	6748	370927				ORPHA	1	7	250	11326	300090
HP:0000252	HP:0000252	Microcephaly	0	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	7	250	11326	300090
HP:0000252	HP:0000252	Microcephaly	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	4	90	28423	615521
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	2512				ORPHA	1	18	181	10879	181590
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	612703	Primary autosomal recessive microcephaly 7	612703	C2675187	OMIM	1	18	181	10879	181590
HP:0000252	HP:0000252	Microcephaly	0	STT3A CL E G H	3703	370921				ORPHA	1	3	106	6172	601134
HP:0000252	HP:0000252	Microcephaly	0	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	3	106	6172	601134
HP:0000252	HP:0000252	Microcephaly	0	STT3B CL E G H	201595	370924				ORPHA	1	5	66	30611	608605
HP:0000252	HP:0000252	Microcephaly	0	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	5	66	30611	608605
HP:0000252	HP:0000252	Microcephaly	0	STXBP1 CL E G H	6812	3095				ORPHA	1	195	538	11444	602926
HP:0000252	HP:0000252	Microcephaly	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	189	11448	603921
HP:0000252	HP:0000252	Microcephaly	0	SUFU CL E G H	51684	280200				ORPHA	1	47	533	16466	607035
HP:0000252	HP:0000252	Microcephaly	0	TAF13 CL E G H	6884	2512				ORPHA	1	4	28	11546	600774
HP:0000252	HP:0000252	Microcephaly	0	TAF13 CL E G H	6884	617432	Mental retardation, autosomal recessive 60	617432	C4479476	OMIM	1	4	28	11546	600774
HP:0000252	HP:0000252	Microcephaly	0	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	5	53	11540	602955
HP:0000252	HP:0000252	Microcephaly	0	TAPT1 CL E G H	202018	616897	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type	616897	C4225162	OMIM	1	3	66	26887	612758
HP:0000252	HP:0000252	Microcephaly	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	7	102	16133	611663
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	352596				ORPHA	1	56	564	29203	613577
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	56	564	29203	613577
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	93324				ORPHA	1	8	161	11582	604934
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	241410	Hypoparathyroidism retardation dysmorphism syndrome	241410	C1855840	OMIM	1	8	161	11582	604934
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	2323	Triple-Negative Breast Cancer Finding		C2348819	ORPHA	1	8	161	11582	604934
HP:0000252	HP:0000252	Microcephaly	0	TBL1XR1 CL E G H	79718	602342	Pierpont syndrome	602342	C1865644	OMIM	1	25	161	29529	608628
HP:0000252	HP:0000252	Microcephaly	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		159	11586	605842
HP:0000252	HP:0000252	Microcephaly	0	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	82	553	11592	602054
HP:0000252	HP:0000252	Microcephaly	0	TBX4 CL E G H	9496	261279				ORPHA	1	59	135	11603	601719
HP:0000252	HP:0000252	Microcephaly	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	148	624	11634	602272
HP:0000252	HP:0000252	Microcephaly	0	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	148	624	11634	602272
HP:0000252	HP:0000252	Microcephaly	0	TCTN2 CL E G H	79867	564				ORPHA	1	15	203	25774	613846
HP:0000252	HP:0000252	Microcephaly	0	TCTN2 CL E G H	79867	613885	Meckel syndrome type 8	613885	C3836857	OMIM	1	15	203	25774	613846
HP:0000252	HP:0000252	Microcephaly	0	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	12	95	24519	613847
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	280200				ORPHA	1	6	14	11701	187395
HP:0000252	HP:0000252	Microcephaly	0	TECPR2 CL E G H	9895	320385				ORPHA	1	8	310	19957	615000
HP:0000252	HP:0000252	Microcephaly	0	TECPR2 CL E G H	9895	615031	Spastic paraplegia 49, autosomal recessive	615031	C3542549	OMIM	1	8	310	19957	615000
HP:0000252	HP:0000252	Microcephaly	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	8	115	29099	611140
HP:0000252	HP:0000252	Microcephaly	0	TERT CL E G H	7015	3322				ORPHA	1	173	1159	11730	187270
HP:0000252	HP:0000252	Microcephaly	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	44	82	11742	107580
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	280200				ORPHA	1	28	170	11776	602630
HP:0000252	HP:0000252	Microcephaly	0	THOC6 CL E G H	79228	613680	Beaulieu-Boycott-Innes syndrome	613680	C3150939	OMIM	1	9	67	28369	615403
HP:0000252	HP:0000252	Microcephaly	0	TINF2 CL E G H	26277	3322				ORPHA	1	42	165	11824	604319
HP:0000252	HP:0000252	Microcephaly	0	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	42	165	11824	604319
HP:0000252	HP:0000252	Microcephaly	0	TMEM107 CL E G H	84314	564				ORPHA	1	3	81	28128	616183
HP:0000252	HP:0000252	Microcephaly	0	TMEM216 CL E G H	51259	564				ORPHA	1	8	109	25018	613277
HP:0000252	HP:0000252	Microcephaly	0	TMEM231 CL E G H	79583	564				ORPHA	1	19	150	37234	614949
HP:0000252	HP:0000252	Microcephaly	0	TMEM260 CL E G H	54916	617478	Structural heart defects and renal anomalies syndrome	617478	C4479549	OMIM	1	3	34	20185	617449
HP:0000252	HP:0000252	Microcephaly	0	TMEM67 CL E G H	91147	564				ORPHA	1	174	316	28396	609884
HP:0000252	HP:0000252	Microcephaly	0	TMEM70 CL E G H	54968	1194				ORPHA	1	18	151	26050	612418
HP:0000252	HP:0000252	Microcephaly	0	TP53RK CL E G H	112858	2065				ORPHA	1	5	26	16197	608679
HP:0000252	HP:0000252	Microcephaly	0	TPRKB CL E G H	51002