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	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	162	13666	605378
HP:0000252	HP:0000252	Microcephaly	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	174	13666	605378
HP:0000252	HP:0000252	Microcephaly	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0000252	HP:0000252	Microcephaly	0	ABCC8 CL E G H	6833	276575				ORPHA	1	1125	59	600509
HP:0000252	HP:0000252	Microcephaly	0	ABCC8 CL E G H	6833	276575				ORPHA	1	1253	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	275	91	600301
HP:0000252	HP:0000252	Microcephaly	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	290	91	600301
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	3322				ORPHA	1	229	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	3322				ORPHA	1	321	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	229	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	616553	Dyskeratosis congenita, autosomal dominant 6	616553	C4225284	OMIM	1	321	25070	609377
HP:0000252	HP:0000252	Microcephaly	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	274	2707	106180
HP:0000252	HP:0000252	Microcephaly	0	ACE CL E G H	1636	267430	Renal dysplasia	267430	C3536714	OMIM	1	295	2707	106180
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	322	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	349	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	322	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	349	132	102630
HP:0000252	HP:0000252	Microcephaly	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	347	144	102560
HP:0000252	HP:0000252	Microcephaly	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	370	144	102560
HP:0000252	HP:0000252	Microcephaly	0	ADAMTSL1 CL E G H	92949	521445				ORPHA	1	112	14632	609198
HP:0000252	HP:0000252	Microcephaly	0	ADAR CL E G H	103	51				ORPHA	1	471	225	146920
HP:0000252	HP:0000252	Microcephaly	0	ADAR CL E G H	103	51				ORPHA	1	654	225	146920
HP:0000252	HP:0000252	Microcephaly	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	52	245	601568
HP:0000252	HP:0000252	Microcephaly	0	ADD3 CL E G H	120	617008	Cerebral palsy, spastic quadriplegic, 3	617008	C4310767	OMIM	1	88	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	368	291	608222
HP:0000252	HP:0000252	Microcephaly	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	582	291	608222
HP:0000252	HP:0000252	Microcephaly	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	330	318	613228
HP:0000252	HP:0000252	Microcephaly	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	355	318	613228
HP:0000252	HP:0000252	Microcephaly	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	143	333	106150
HP:0000252	HP:0000252	Microcephaly	0	AGT CL E G H	183	267430	Renal dysplasia	267430	C3536714	OMIM	1	153	333	106150
HP:0000252	HP:0000252	Microcephaly	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	88	336	106165
HP:0000252	HP:0000252	Microcephaly	0	AGTR1 CL E G H	185	267430	Renal dysplasia	267430	C3536714	OMIM	1	103	336	106165
HP:0000252	HP:0000252	Microcephaly	0	AHSG CL E G H	197	2850				ORPHA	1	61	349	138680
HP:0000252	HP:0000252	Microcephaly	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	52	10648	603605
HP:0000252	HP:0000252	Microcephaly	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	66	10648	603605
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	346	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	392	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	346	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	392	9722	138250
HP:0000252	HP:0000252	Microcephaly	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	133	7179	603178
HP:0000252	HP:0000252	Microcephaly	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	146	7179	603178
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	79327				ORPHA	1	260	18294	605907
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	79327				ORPHA	1	391	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	260	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	391	18294	605907
HP:0000252	HP:0000252	Microcephaly	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	633	30881	300776
HP:0000252	HP:0000252	Microcephaly	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	710	30881	300776
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	79321				ORPHA	1	159	23056	608750
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	79321				ORPHA	1	166	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	159	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	166	23056	608750
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	212	15672	606941
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	222	15672	606941
HP:0000252	HP:0000252	Microcephaly	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1	245	450	605420
HP:0000252	HP:0000252	Microcephaly	0	ALX4 CL E G H	60529	613451	Frontonasal dysplasia 2	613451	C3150703	OMIM	1	246	450	605420
HP:0000252	HP:0000252	Microcephaly	0	ANK1 CL E G H	286	251066				ORPHA	1	567	492	612641
HP:0000252	HP:0000252	Microcephaly	0	ANK1 CL E G H	286	251066				ORPHA	1	604	492	612641
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	184	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	189	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	184	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	189	29101	616062
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1101	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	1184	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1101	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	1184	21316	611192
HP:0000252	HP:0000252	Microcephaly	0	AP1S2 CL E G H	8905	85329				ORPHA	1	216	560	300629
HP:0000252	HP:0000252	Microcephaly	0	AP1S2 CL E G H	8905	85329				ORPHA	1	219	560	300629
HP:0000252	HP:0000252	Microcephaly	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	356	566	603401
HP:0000252	HP:0000252	Microcephaly	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	467	566	603401
HP:0000252	HP:0000252	Microcephaly	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	226	568	607246
HP:0000252	HP:0000252	Microcephaly	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	394	568	607246
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	280763				ORPHA	1	189	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	280763				ORPHA	1	254	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	189	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	254	572	607245
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	280763				ORPHA	1	238	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	280763				ORPHA	1	332	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	238	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	332	573	607244
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	280763				ORPHA	1	199	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	280763				ORPHA	1	264	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	199	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	264	574	602296
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	280763				ORPHA	1	89	575	607243
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	280763				ORPHA	1	110	575	607243
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	89	575	607243
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	110	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	69	649	600820
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	95	649	600820
HP:0000252	HP:0000252	Microcephaly	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	174	29216	610911
HP:0000252	HP:0000252	Microcephaly	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	210	29216	610911
HP:0000252	HP:0000252	Microcephaly	0	ARID1A CL E G H	8289	1465				ORPHA	1	383	11110	603024
HP:0000252	HP:0000252	Microcephaly	0	ARID1A CL E G H	8289	1465				ORPHA	1	442	11110	603024
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	1465				ORPHA	1	866	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	1465				ORPHA	1	958	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	251056				ORPHA	1	866	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	251056				ORPHA	1	958	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	866	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	958	18040	614556
HP:0000252	HP:0000252	Microcephaly	0	ARID2 CL E G H	196528	1465				ORPHA	1	179	18037	609539
HP:0000252	HP:0000252	Microcephaly	0	ARID2 CL E G H	196528	1465				ORPHA	1	186	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		719	300180
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	452				ORPHA	1	565	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	452				ORPHA	1	624	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	2508				ORPHA	1	565	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	2508				ORPHA	1	624	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	565	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	624	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	565	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	624	18060	300382
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	2512				ORPHA	1	920	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	2512				ORPHA	1	1103	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	920	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	1103	19048	605481
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	97297				ORPHA	1	298	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	97297				ORPHA	1	388	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	298	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	388	18318	612990
HP:0000252	HP:0000252	Microcephaly	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	411	29357	615115
HP:0000252	HP:0000252	Microcephaly	0	ASXL3 CL E G H	80816	615485	Bainbridge-Ropers syndrome	615485	C3809650	OMIM	1	432	29357	615115
HP:0000252	HP:0000252	Microcephaly	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	147	823	164360
HP:0000252	HP:0000252	Microcephaly	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	149	823	164360
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	417	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	458	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	417	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	458	18481	611716
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	565				ORPHA	1	897	869	300011
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	565				ORPHA	1	1003	869	300011
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	897	869	300011
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1003	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	209	18802	608918
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	219	18802	608918
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	755	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	1007	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	755	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	210600	Seckel syndrome 1	210600	CN033164	OMIM	1	1007	882	601215
HP:0000252	HP:0000252	Microcephaly	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	239	33499	606605
HP:0000252	HP:0000252	Microcephaly	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	333	33499	606605
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	847				ORPHA	1	1103	886	300032
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	847				ORPHA	1	1217	886	300032
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1103	886	300032
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1217	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	1103	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	1217	886	300032
HP:0000252	HP:0000252	Microcephaly	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	439	14262	607270
HP:0000252	HP:0000252	Microcephaly	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	454	14262	607270
HP:0000252	HP:0000252	Microcephaly	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	226	20207	610308
HP:0000252	HP:0000252	Microcephaly	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	248	20207	610308
HP:0000252	HP:0000252	Microcephaly	0	B9D1 CL E G H	27077	564				ORPHA	1	196	24123	614144
HP:0000252	HP:0000252	Microcephaly	0	B9D1 CL E G H	27077	564				ORPHA	1	230	24123	614144
HP:0000252	HP:0000252	Microcephaly	0	B9D2 CL E G H	80776	564				ORPHA	1	50	28636	611951
HP:0000252	HP:0000252	Microcephaly	0	B9D2 CL E G H	80776	564				ORPHA	1	58	28636	611951
HP:0000252	HP:0000252	Microcephaly	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0000252	HP:0000252	Microcephaly	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	369939				ORPHA	1	282	16695	300398
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	369939				ORPHA	1	301	16695	300398
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	282	16695	300398
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	300475	Chromosome Xq28 deletion syndrome	300475	C1845408	OMIM	1	301	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	125	13221	606557
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	129	13221	606557
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	502	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	536	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	502	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	536	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	502	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	536	20893	300485
HP:0000252	HP:0000252	Microcephaly	0	BCR CL E G H	613	261330				ORPHA	1	214	1014	151410
HP:0000252	HP:0000252	Microcephaly	0	BCR CL E G H	613	261330				ORPHA	1	217	1014	151410
HP:0000252	HP:0000252	Microcephaly	0	BDNF CL E G H	627	893				ORPHA	1	56	1033	113505
HP:0000252	HP:0000252	Microcephaly	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1	2048	1058	604610
HP:0000252	HP:0000252	Microcephaly	0	BLM CL E G H	641	210900	Bloom syndrome	210900	C0005859	OMIM	1	2425	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	725	21701	614506
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	847	21701	614506
HP:0000252	HP:0000252	Microcephaly	0	BRCA1 CL E G H	672	84				ORPHA	1	12207	1100	113705
HP:0000252	HP:0000252	Microcephaly	0	BRCA1 CL E G H	672	84				ORPHA	1	12586	1100	113705
HP:0000252	HP:0000252	Microcephaly	0	BRCA2 CL E G H	675	84				ORPHA	1	13912	1101	600185
HP:0000252	HP:0000252	Microcephaly	0	BRCA2 CL E G H	675	84				ORPHA	1	14742	1101	600185
HP:0000252	HP:0000252	Microcephaly	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	142	11551	604902
HP:0000252	HP:0000252	Microcephaly	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	158	11551	604902
HP:0000252	HP:0000252	Microcephaly	0	BRIP1 CL E G H	83990	84				ORPHA	1	3464	20473	605882
HP:0000252	HP:0000252	Microcephaly	0	BRIP1 CL E G H	83990	84				ORPHA	1	3778	20473	605882
HP:0000252	HP:0000252	Microcephaly	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	86	1148	602452
HP:0000252	HP:0000252	Microcephaly	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	88	1148	602452
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	511	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	617	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	511	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	617	1149	602860
HP:0000252	HP:0000252	Microcephaly	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	51	1151	603719
HP:0000252	HP:0000252	Microcephaly	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	238	24564	615944
HP:0000252	HP:0000252	Microcephaly	0	C2CD3 CL E G H	26005	615948	Orofaciodigital syndrome xiv	615948	C4014780	OMIM	1	355	24564	615944
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	163937				ORPHA	1	583	1497	300172
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	163937				ORPHA	1	633	1497	300172
HP:0000252	HP:0000252	Microcephaly	0	CC2D2A CL E G H	57545	564				ORPHA	1	881	29253	612013
HP:0000252	HP:0000252	Microcephaly	0	CC2D2A CL E G H	57545	564				ORPHA	1	1064	29253	612013
HP:0000252	HP:0000252	Microcephaly	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	23	24856	0
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	56	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	62	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	56	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	62	16892	606037
HP:0000252	HP:0000252	Microcephaly	0	CDC45 CL E G H	8318	2554				ORPHA	1	500	1739	603465
HP:0000252	HP:0000252	Microcephaly	0	CDC45 CL E G H	8318	2554				ORPHA	1	542	1739	603465
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	2554				ORPHA	1	71	1744	602627
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	2554				ORPHA	1	83	1744	602627
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	613805	Meier-Gorlin syndrome 5	613805	C3151126	OMIM	1	71	1744	602627
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	613805	Meier-Gorlin syndrome 5	613805	C3151126	OMIM	1	83	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	56	14628	609937
HP:0000252	HP:0000252	Microcephaly	0	CDCA7 CL E G H	83879	616910	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	616910	C4310799	OMIM	1	103	14628	609937
HP:0000252	HP:0000252	Microcephaly	0	CDH11 CL E G H	1009	1299				ORPHA	1	52	1750	600023
HP:0000252	HP:0000252	Microcephaly	0	CDH11 CL E G H	1009	1299				ORPHA	1	59	1750	600023
HP:0000252	HP:0000252	Microcephaly	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	77	1774	123831
HP:0000252	HP:0000252	Microcephaly	0	CDK5 CL E G H	1020	616342	Lissencephaly 7 with cerebellar hypoplasia	616342	C4225359	OMIM	1	83	1774	123831
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	454	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	463	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	604804	Primary autosomal recessive microcephaly 3	604804	C1858108	OMIM	1	454	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	604804	Primary autosomal recessive microcephaly 3	604804	C1858108	OMIM	1	463	18672	608201
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	2512				ORPHA	1	45	1777	603368
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	616080	Primary autosomal recessive microcephaly 12	616080	C4015156	OMIM	1	45	1777	603368
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	3095				ORPHA	1	1270	11411	300203
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	3095				ORPHA	1	1399	11411	300203
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	280200				ORPHA	1	489	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	280200				ORPHA	1	518	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	489	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	614226	Holoprosencephaly 11	614226	C3280215	OMIM	1	518	17104	608707
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	2554				ORPHA	1	216	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	2554				ORPHA	1	293	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	613804	Meier-Gorlin syndrome 4	613804	C3151120	OMIM	1	216	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	613804	Meier-Gorlin syndrome 4	613804	C3151120	OMIM	1	293	24576	605525
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	252	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	262	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	252	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	262	1856	117143
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	2512				ORPHA	1	347	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	2512				ORPHA	1	399	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	347	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	399	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	347	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	608393	Primary autosomal recessive microcephaly 6	608393	C1842109	OMIM	1	399	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	347	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	399	17272	609279
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	2512				ORPHA	1	176	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	2512				ORPHA	1	245	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	176	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	245	29086	611423
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	2512				ORPHA	1	334	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	2512				ORPHA	1	404	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	334	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	404	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	614852	Primary autosomal recessive microcephaly 9	614852	C3553886	OMIM	1	334	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	614852	Primary autosomal recessive microcephaly 9	614852	C3553886	OMIM	1	404	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	334	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	404	29298	613529
HP:0000252	HP:0000252	Microcephaly	0	CEP290 CL E G H	80184	564				ORPHA	1	1535	29021	610142
HP:0000252	HP:0000252	Microcephaly	0	CEP290 CL E G H	80184	564				ORPHA	1	1902	29021	610142
HP:0000252	HP:0000252	Microcephaly	0	CEP55 CL E G H	55165	564				ORPHA	1	40	1161	610000
HP:0000252	HP:0000252	Microcephaly	0	CEP55 CL E G H	55165	564				ORPHA	1	44	1161	610000
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	212	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	275	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	212	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	275	30794	607951
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	2512				ORPHA	1	167	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	2512				ORPHA	1	200	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	167	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	200	25815	614724
HP:0000252	HP:0000252	Microcephaly	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1752	20626	608892
HP:0000252	HP:0000252	Microcephaly	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	1980	20626	608892
HP:0000252	HP:0000252	Microcephaly	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	335	1938	612395
HP:0000252	HP:0000252	Microcephaly	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	382	1938	612395
HP:0000252	HP:0000252	Microcephaly	0	CHRNG CL E G H	1146	2990				ORPHA	1	206	1967	100730
HP:0000252	HP:0000252	Microcephaly	0	CHRNG CL E G H	1146	2990				ORPHA	1	212	1967	100730
HP:0000252	HP:0000252	Microcephaly	0	CHUK CL E G H	1147	613630	Cocoon syndrome	613630	C3150891	OMIM	1	65	1974	600664
HP:0000252	HP:0000252	Microcephaly	0	CHUK CL E G H	1147	613630	Cocoon syndrome	613630	C3150891	OMIM	1	91	1974	600664
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	2512				ORPHA	1	319	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	2512				ORPHA	1	329	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	319	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	329	1985	605629
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	78	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	94	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	78	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	94	26877	616174
HP:0000252	HP:0000252	Microcephaly	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0000252	HP:0000252	Microcephaly	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	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	337	30664	616254
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	404	30664	616254
HP:0000252	HP:0000252	Microcephaly	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	176	103	607803
HP:0000252	HP:0000252	Microcephaly	0	CNNM2 CL E G H	54805	616418	Hypomagnesemia, seizures, and mental retardation	616418	C4225333	OMIM	1	191	103	607803
HP:0000252	HP:0000252	Microcephaly	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	158	8011	602346
HP:0000252	HP:0000252	Microcephaly	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	216	8011	602346
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	85172				ORPHA	1	221	18620	606976
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	85172				ORPHA	1	247	18620	606976
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	263501				ORPHA	1	221	18620	606976
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	263501				ORPHA	1	247	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	281	18621	606977
HP:0000252	HP:0000252	Microcephaly	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	1	297	18621	606977
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2512				ORPHA	1	51	2232	606990
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2512				ORPHA	1	63	2232	606990
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	51	2232	606990
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	617800	MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE	617800	C4540488	OMIM	1	63	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	216	2263	603646
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	233	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	171	2291	300885
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	175	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	171	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	175	2291	300885
HP:0000252	HP:0000252	Microcephaly	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	151	2309	605032
HP:0000252	HP:0000252	Microcephaly	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	163	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	505	2330	600650
HP:0000252	HP:0000252	Microcephaly	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	618	2330	600650
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000252	HP:0000252	Microcephaly	0	CRKL CL E G H	1399	261330				ORPHA	1	398	2363	602007
HP:0000252	HP:0000252	Microcephaly	0	CRKL CL E G H	1399	261330				ORPHA	1	406	2363	602007
HP:0000252	HP:0000252	Microcephaly	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	177	2457	115440
HP:0000252	HP:0000252	Microcephaly	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	182	2457	115440
HP:0000252	HP:0000252	Microcephaly	0	CSPP1 CL E G H	79848	564				ORPHA	1	476	26193	611654
HP:0000252	HP:0000252	Microcephaly	0	CSPP1 CL E G H	79848	564				ORPHA	1	687	26193	611654
HP:0000252	HP:0000252	Microcephaly	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	174	2494	602618
HP:0000252	HP:0000252	Microcephaly	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	187	2494	602618
HP:0000252	HP:0000252	Microcephaly	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	190	13723	604167
HP:0000252	HP:0000252	Microcephaly	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	201	13723	604167
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	269	2514	116806
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	364	2514	116806
HP:0000252	HP:0000252	Microcephaly	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	304	2516	604275
HP:0000252	HP:0000252	Microcephaly	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	308	2516	604275
HP:0000252	HP:0000252	Microcephaly	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	413	2529	116840
HP:0000252	HP:0000252	Microcephaly	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	465	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	128	28005	617057
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	142	28005	617057
HP:0000252	HP:0000252	Microcephaly	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	134	2873	613213
HP:0000252	HP:0000252	Microcephaly	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	144	2873	613213
HP:0000252	HP:0000252	Microcephaly	0	CYP26C1 CL E G H	340665	398189				ORPHA	1	33	20577	608428
HP:0000252	HP:0000252	Microcephaly	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	107	29812	610534
HP:0000252	HP:0000252	Microcephaly	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	110	29812	610534
HP:0000252	HP:0000252	Microcephaly	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	123	2736	601150
HP:0000252	HP:0000252	Microcephaly	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	126	2736	601150
HP:0000252	HP:0000252	Microcephaly	0	DDX3X CL E G H	1654	457260				ORPHA	1	461	2745	300160
HP:0000252	HP:0000252	Microcephaly	0	DDX3X CL E G H	1654	457260				ORPHA	1	496	2745	300160
HP:0000252	HP:0000252	Microcephaly	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	411	2845	600594
HP:0000252	HP:0000252	Microcephaly	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	417	2845	600594
HP:0000252	HP:0000252	Microcephaly	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	338	2846	601279
HP:0000252	HP:0000252	Microcephaly	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	341	2846	601279
HP:0000252	HP:0000252	Microcephaly	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	402	2847	609030
HP:0000252	HP:0000252	Microcephaly	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	405	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	140	2858	601465
HP:0000252	HP:0000252	Microcephaly	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	156	2858	601465
HP:0000252	HP:0000252	Microcephaly	0	DHCR24 CL E G H	1718	35107				ORPHA	1	180	2859	606418
HP:0000252	HP:0000252	Microcephaly	0	DHCR24 CL E G H	1718	35107				ORPHA	1	198	2859	606418
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	818				ORPHA	1	511	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	818				ORPHA	1	546	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	511	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	546	2860	602858
HP:0000252	HP:0000252	Microcephaly	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	218	23537	614984
HP:0000252	HP:0000252	Microcephaly	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	337	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	554	2876	602121
HP:0000252	HP:0000252	Microcephaly	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	758	2876	602121
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	280200				ORPHA	1	145	19711	607502
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	280200				ORPHA	1	178	19711	607502
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	3322				ORPHA	1	396	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	3322				ORPHA	1	426	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	396	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	426	2890	300126
HP:0000252	HP:0000252	Microcephaly	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	168	2896	608770
HP:0000252	HP:0000252	Microcephaly	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	199	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	329	2898	238331
HP:0000252	HP:0000252	Microcephaly	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	355	2898	238331
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	280200				ORPHA	1	177	2908	606582
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	280200				ORPHA	1	206	2908	606582
HP:0000252	HP:0000252	Microcephaly	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	223	2939	601810
HP:0000252	HP:0000252	Microcephaly	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	290	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	263	2973	603850
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	332	2973	603850
HP:0000252	HP:0000252	Microcephaly	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	361	19189	614194
HP:0000252	HP:0000252	Microcephaly	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	472	19189	614194
HP:0000252	HP:0000252	Microcephaly	0	DONSON CL E G H	29980	251230	Microcephaly-micromelia syndrome	251230	C1855079	OMIM	1	100	2993	611428
HP:0000252	HP:0000252	Microcephaly	0	DONSON CL E G H	29980	251230	Microcephaly-micromelia syndrome	251230	C1855079	OMIM	1	131	2993	611428
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	199	2995	191350
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	233	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	199	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	233	2995	191350
HP:0000252	HP:0000252	Microcephaly	0	DPF2 CL E G H	5977	1465				ORPHA	1	37	9964	601671
HP:0000252	HP:0000252	Microcephaly	0	DPF2 CL E G H	5977	1465				ORPHA	1	45	9964	601671
HP:0000252	HP:0000252	Microcephaly	0	DPM1 CL E G H	8813	79322				ORPHA	1	156	3005	603503
HP:0000252	HP:0000252	Microcephaly	0	DPM1 CL E G H	8813	79322				ORPHA	1	188	3005	603503
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	2514				ORPHA	1	222	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	2514				ORPHA	1	225	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	222	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	225	3010	126141
HP:0000252	HP:0000252	Microcephaly	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	338	3012	612779
HP:0000252	HP:0000252	Microcephaly	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	340	3012	612779
HP:0000252	HP:0000252	Microcephaly	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	75	29043	612666
HP:0000252	HP:0000252	Microcephaly	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	86	29043	612666
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	239				ORPHA	1	191	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	239				ORPHA	1	229	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	223800	Dyggve-Melchior-Clausen syndrome	223800	C0265286	OMIM	1	191	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	223800	Dyggve-Melchior-Clausen syndrome	223800	C0265286	OMIM	1	229	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	607326	Smith-McCort dysplasia 1	607326	C1846431	OMIM	1	191	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	607326	Smith-McCort dysplasia 1	607326	C1846431	OMIM	1	229	21317	607461
HP:0000252	HP:0000252	Microcephaly	0	EDC3 CL E G H	80153	616460	Mental retardation, autosomal recessive 50	616460	C4225319	OMIM	1	46	26114	609842
HP:0000252	HP:0000252	Microcephaly	0	EDC3 CL E G H	80153	616460	Mental retardation, autosomal recessive 50	616460	C4225319	OMIM	1	47	26114	609842
HP:0000252	HP:0000252	Microcephaly	0	EFNB1 CL E G H	1947	1520				ORPHA	1	201	3226	300035
HP:0000252	HP:0000252	Microcephaly	0	EFNB1 CL E G H	1947	1520				ORPHA	1	210	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	282	30858	603892
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	310	30858	603892
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1164	24650	607001
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	96147				ORPHA	1	1301	24650	607001
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	178	3255	604032
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	296	3255	604032
HP:0000252	HP:0000252	Microcephaly	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	190	3267	300161
HP:0000252	HP:0000252	Microcephaly	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	196	3267	300161
HP:0000252	HP:0000252	Microcephaly	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	657	3327	130160
HP:0000252	HP:0000252	Microcephaly	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	704	3327	130160
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	1270				ORPHA	1	63	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	1270				ORPHA	1	69	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	211180	Bowen-Conradi syndrome	211180	C1859405	OMIM	1	63	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	211180	Bowen-Conradi syndrome	211180	C1859405	OMIM	1	69	16912	611531
HP:0000252	HP:0000252	Microcephaly	0	ENTPD1 CL E G H	953	401810				ORPHA	1	87	3363	601752
HP:0000252	HP:0000252	Microcephaly	0	ENTPD1 CL E G H	953	401810				ORPHA	1	115	3363	601752
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	678	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	731	3373	602700
HP:0000252	HP:0000252	Microcephaly	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	801	29331	615068
HP:0000252	HP:0000252	Microcephaly	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1033	29331	615068
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	1466				ORPHA	1	106	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	1466				ORPHA	1	110	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	106	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	110	3433	126380
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	1466				ORPHA	1	360	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	1466				ORPHA	1	479	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	220295				ORPHA	1	360	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	220295				ORPHA	1	479	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	610756	Cerebrooculofacioskeletal syndrome 2	610756	C1853102	OMIM	1	360	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	610756	Cerebrooculofacioskeletal syndrome 2	610756	C1853102	OMIM	1	479	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	360	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	479	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	360	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	278730	Xeroderma pigmentosum, group D	278730	C0268138	OMIM	1	479	3434	126340
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	220295				ORPHA	1	186	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	220295				ORPHA	1	283	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	186	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	283	3435	133510
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	84				ORPHA	1	469	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	84				ORPHA	1	538	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	220295				ORPHA	1	469	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	220295				ORPHA	1	538	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	469	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	538	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	469	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	538	3436	133520
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	1466				ORPHA	1	361	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	1466				ORPHA	1	374	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	220295				ORPHA	1	361	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	220295				ORPHA	1	374	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	616570	Cerebrooculofacioskeletal syndrome 3	616570	C1851443	OMIM	1	361	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	616570	Cerebrooculofacioskeletal syndrome 3	616570	C1851443	OMIM	1	374	3437	133530
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	1466				ORPHA	1	825	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	1466				ORPHA	1	946	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	825	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	946	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	825	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	946	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	825	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	278800	DE SANCTIS-CACCHIONE SYNDROME	278800	C0265201	OMIM	1	946	3438	609413
HP:0000252	HP:0000252	Microcephaly	0	ERCC6L2 CL E G H	375748	615715	Bone marrow failure syndrome 2	615715	C3810350	OMIM	1	131	26922	615667
HP:0000252	HP:0000252	Microcephaly	0	ERCC6L2 CL E G H	375748	615715	Bone marrow failure syndrome 2	615715	C3810350	OMIM	1	309	26922	615667
HP:0000252	HP:0000252	Microcephaly	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	310	3439	609412
HP:0000252	HP:0000252	Microcephaly	0	ERCC8 CL E G H	1161	216400	Cockayne syndrome type A	216400	C0751039	OMIM	1	343	3439	609412
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	3103				ORPHA	1	342	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	3103				ORPHA	1	376	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	342	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	376	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	342	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	376	27230	609353
HP:0000252	HP:0000252	Microcephaly	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	402	16817	601755
HP:0000252	HP:0000252	Microcephaly	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	407	16817	601755
HP:0000252	HP:0000252	Microcephaly	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	48	9137	606180
HP:0000252	HP:0000252	Microcephaly	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	108	9137	606180
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	245	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	291	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	245	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	291	22140	611061
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	84				ORPHA	1	2658	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	84				ORPHA	1	3146	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	2658	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	3146	3582	607139
HP:0000252	HP:0000252	Microcephaly	0	FANCB CL E G H	2187	84				ORPHA	1	410	3583	300515
HP:0000252	HP:0000252	Microcephaly	0	FANCB CL E G H	2187	84				ORPHA	1	481	3583	300515
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	84				ORPHA	1	1079	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	84				ORPHA	1	1175	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1079	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	1175	3584	613899
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	84				ORPHA	1	729	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	84				ORPHA	1	864	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	729	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	864	3585	613984
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	84				ORPHA	1	281	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	84				ORPHA	1	360	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	281	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	360	3586	613976
HP:0000252	HP:0000252	Microcephaly	0	FANCF CL E G H	2188	84				ORPHA	1	245	3587	613897
HP:0000252	HP:0000252	Microcephaly	0	FANCF CL E G H	2188	84				ORPHA	1	312	3587	613897
HP:0000252	HP:0000252	Microcephaly	0	FANCG CL E G H	2189	84				ORPHA	1	473	3588	602956
HP:0000252	HP:0000252	Microcephaly	0	FANCG CL E G H	2189	84				ORPHA	1	535	3588	602956
HP:0000252	HP:0000252	Microcephaly	0	FANCI CL E G H	55215	84				ORPHA	1	791	25568	611360
HP:0000252	HP:0000252	Microcephaly	0	FANCI CL E G H	55215	84				ORPHA	1	1040	25568	611360
HP:0000252	HP:0000252	Microcephaly	0	FANCL CL E G H	55120	84				ORPHA	1	261	20748	608111
HP:0000252	HP:0000252	Microcephaly	0	FANCL CL E G H	55120	84				ORPHA	1	348	20748	608111
HP:0000252	HP:0000252	Microcephaly	0	FANCM CL E G H	57697	84				ORPHA	1	1179	23168	609644
HP:0000252	HP:0000252	Microcephaly	0	FANCM CL E G H	57697	84				ORPHA	1	1450	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	66	26222	616107
HP:0000252	HP:0000252	Microcephaly	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	126	26222	616107
HP:0000252	HP:0000252	Microcephaly	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	361	21062	611592
HP:0000252	HP:0000252	Microcephaly	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	429	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	200	3602	604580
HP:0000252	HP:0000252	Microcephaly	0	FBLN5 CL E G H	10516	219100	Autosomal recessive cutis laxa type IA	219100	CN033664	OMIM	1	258	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	150	13590	607871
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	299	13590	607871
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	280200				ORPHA	1	66	3686	600483
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	280200				ORPHA	1	69	3686	600483
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	280200				ORPHA	1	530	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	280200				ORPHA	1	597	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	530	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	597	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	190440	Trigonocephaly 1	190440	C0432122	OMIM	1	530	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	190440	Trigonocephaly 1	190440	C0432122	OMIM	1	597	3688	136350
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	85165				ORPHA	1	541	3690	134934
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	85165				ORPHA	1	542	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	541	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	542	3690	134934
HP:0000252	HP:0000252	Microcephaly	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	214	3693	605830
HP:0000252	HP:0000252	Microcephaly	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	267	3693	605830
HP:0000252	HP:0000252	Microcephaly	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1136	3700	136850
HP:0000252	HP:0000252	Microcephaly	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1292	3700	136850
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	558	16873	609390
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	649	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	572	17997	606596
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	671	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	572	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	671	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	599	3622	607440
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	679	3622	607440
HP:0000252	HP:0000252	Microcephaly	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1274	27310	607273
HP:0000252	HP:0000252	Microcephaly	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	1439	27310	607273
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	3095				ORPHA	1	491	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	3095				ORPHA	1	534	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	261144				ORPHA	1	491	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	261144				ORPHA	1	534	3811	164874
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	280200				ORPHA	1	206	3814	603621
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	280200				ORPHA	1	220	3814	603621
HP:0000252	HP:0000252	Microcephaly	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	737	19185	607830
HP:0000252	HP:0000252	Microcephaly	0	FRAS1 CL E G H	80144	219000	Cryptophthalmos syndrome	219000	C0265233	OMIM	1	822	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	152	24678	610966
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	177	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	159	24861	611045
HP:0000252	HP:0000252	Microcephaly	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	198	24861	611045
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	3095				ORPHA	1	504	4507	607340
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	3095				ORPHA	1	557	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	504	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	557	4507	607340
HP:0000252	HP:0000252	Microcephaly	0	GABRD CL E G H	2563	1606				ORPHA	1	340	4084	137163
HP:0000252	HP:0000252	Microcephaly	0	GABRD CL E G H	2563	1606				ORPHA	1	361	4084	137163
HP:0000252	HP:0000252	Microcephaly	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	141	4092	605363
HP:0000252	HP:0000252	Microcephaly	0	GAD1 CL E G H	2571	603513	Cerebral palsy, spastic quadriplegic, 1	603513	C2751938	OMIM	1	162	4092	605363
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	280200				ORPHA	1	52	4165	139185
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	280200				ORPHA	1	58	4165	139185
HP:0000252	HP:0000252	Microcephaly	0	GATA4 CL E G H	2626	251071				ORPHA	1	464	4173	600576
HP:0000252	HP:0000252	Microcephaly	0	GATA4 CL E G H	2626	251071				ORPHA	1	541	4173	600576
HP:0000252	HP:0000252	Microcephaly	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1	261	4177	606463
HP:0000252	HP:0000252	Microcephaly	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1	269	4177	606463
HP:0000252	HP:0000252	Microcephaly	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	385	13780	606639
HP:0000252	HP:0000252	Microcephaly	0	GFM1 CL E G H	85476	609060	Combined oxidative phosphorylation deficiency 1	609060	C1836797	OMIM	1	432	13780	606639
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	169	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	164200	Oculodentodigital dysplasia	164200	C0812437	OMIM	1	191	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	169	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	191	4274	121014
HP:0000252	HP:0000252	Microcephaly	0	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	385	4279	121013
HP:0000252	HP:0000252	Microcephaly	0	GJA5 CL E G H	2702	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	429	4279	121013
HP:0000252	HP:0000252	Microcephaly	0	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	376	4281	600897
HP:0000252	HP:0000252	Microcephaly	0	GJA8 CL E G H	2703	612474	1q21.1 recurrent microdeletion	612474	C2675897	OMIM	1	391	4281	600897
HP:0000252	HP:0000252	Microcephaly	0	GJB3 CL E G H	2707	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	145	4285	603324
HP:0000252	HP:0000252	Microcephaly	0	GJB3 CL E G H	2707	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	156	4285	603324
HP:0000252	HP:0000252	Microcephaly	0	GJB4 CL E G H	127534	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	53	4286	605425
HP:0000252	HP:0000252	Microcephaly	0	GJB4 CL E G H	127534	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	54	4286	605425
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	280200				ORPHA	1	469	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	280200				ORPHA	1	518	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	469	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	610829	Holoprosencephaly 9	610829	C1835819	OMIM	1	518	4318	165230
HP:0000252	HP:0000252	Microcephaly	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	49	24247	610516
HP:0000252	HP:0000252	Microcephaly	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	67	24247	610516
HP:0000252	HP:0000252	Microcephaly	0	GMNN CL E G H	51053	2554				ORPHA	1	39	17493	602842
HP:0000252	HP:0000252	Microcephaly	0	GMNN CL E G H	51053	2554				ORPHA	1	45	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	203	22932	615320
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	234	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	203	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	234	22932	615320
HP:0000252	HP:0000252	Microcephaly	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	193	4416	602744
HP:0000252	HP:0000252	Microcephaly	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	241	4416	602744
HP:0000252	HP:0000252	Microcephaly	0	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	130	25676	607983
HP:0000252	HP:0000252	Microcephaly	0	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	174	25676	607983
HP:0000252	HP:0000252	Microcephaly	0	GPKOW CL E G H	27238	2570	Growth deficiency brachydactyly unusual facies			ORPHA	1	167	30677	301003
HP:0000252	HP:0000252	Microcephaly	0	GPKOW CL E G H	27238	2570	Growth deficiency brachydactyly unusual facies			ORPHA	1	170	30677	301003
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	74	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	477673	ANO5-Related Disorders		CN239193	ORPHA	1	76	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	74	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	76	18062	138210
HP:0000252	HP:0000252	Microcephaly	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	128	4588	602717
HP:0000252	HP:0000252	Microcephaly	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	316	4588	602717
HP:0000252	HP:0000252	Microcephaly	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	1	90	4651	189964
HP:0000252	HP:0000252	Microcephaly	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	1	116	4651	189964
HP:0000252	HP:0000252	Microcephaly	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	159	4659	601679
HP:0000252	HP:0000252	Microcephaly	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	160	4659	601679
HP:0000252	HP:0000252	Microcephaly	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	211	4661	604318
HP:0000252	HP:0000252	Microcephaly	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	213	4661	604318
HP:0000252	HP:0000252	Microcephaly	0	HBA1 CL E G H	3039	98791				ORPHA	1	369	4823	141800
HP:0000252	HP:0000252	Microcephaly	0	HBA1 CL E G H	3039	98791				ORPHA	1	375	4823	141800
HP:0000252	HP:0000252	Microcephaly	0	HBA2 CL E G H	3040	98791				ORPHA	1	303	4824	141850
HP:0000252	HP:0000252	Microcephaly	0	HBA2 CL E G H	3040	98791				ORPHA	1	320	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	214	4837	300056
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	220	4837	300056
HP:0000252	HP:0000252	Microcephaly	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	601	4839	300019
HP:0000252	HP:0000252	Microcephaly	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	634	4839	300019
HP:0000252	HP:0000252	Microcephaly	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	385	14063	605314
HP:0000252	HP:0000252	Microcephaly	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	407	14063	605314
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	269	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	287	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	269	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	287	13315	300269
HP:0000252	HP:0000252	Microcephaly	0	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	56	18270	605743
HP:0000252	HP:0000252	Microcephaly	0	HHAT CL E G H	55733	1422	Cohen Hayden syndrome			ORPHA	1	62	18270	605743
HP:0000252	HP:0000252	Microcephaly	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	189	5004	300193
HP:0000252	HP:0000252	Microcephaly	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000252	HP:0000252	Microcephaly	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	37	5028	605238
HP:0000252	HP:0000252	Microcephaly	0	HNMT CL E G H	3176	616739	Mental retardation, autosomal recessive 51	616739	C4225220	OMIM	1	40	5028	605238
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	238769				ORPHA	1	498	5048	602869
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	238769				ORPHA	1	571	5048	602869
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	498	5048	602869
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	571	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		5330	600709
HP:0000252	HP:0000252	Microcephaly	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	140	27302	615316
HP:0000252	HP:0000252	Microcephaly	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	161	27302	615316
HP:0000252	HP:0000252	Microcephaly	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	109	18550	609382
HP:0000252	HP:0000252	Microcephaly	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	118	18550	609382
HP:0000252	HP:0000252	Microcephaly	0	IFIH1 CL E G H	64135	51				ORPHA	1	476	18873	606951
HP:0000252	HP:0000252	Microcephaly	0	IFIH1 CL E G H	64135	51				ORPHA	1	718	18873	606951
HP:0000252	HP:0000252	Microcephaly	0	IFT74 CL E G H	80173	617119	Bardet-Biedl syndrome 20	617119	C4310707	OMIM	1	142	21424	608040
HP:0000252	HP:0000252	Microcephaly	0	IFT74 CL E G H	80173	617119	Bardet-Biedl syndrome 20	617119	C4310707	OMIM	1	210	21424	608040
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	73272				ORPHA	1	170	5464	147440
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	73272				ORPHA	1	178	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	170	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	178	5464	147440
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	73273				ORPHA	1	662	5465	147370
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	73273				ORPHA	1	680	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	662	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	680	5465	147370
HP:0000252	HP:0000252	Microcephaly	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	326	5961	300248
HP:0000252	HP:0000252	Microcephaly	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	337	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	155	6139	605025
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	168	6139	605025
HP:0000252	HP:0000252	Microcephaly	0	ITGB6 CL E G H	3694	2850				ORPHA	1	90	6161	147558
HP:0000252	HP:0000252	Microcephaly	0	ITGB6 CL E G H	3694	2850				ORPHA	1	92	6161	147558
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	457193				ORPHA	1	400	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	457193				ORPHA	1	427	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	400	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	427	13013	601408
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	3047				ORPHA	1	396	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	3047				ORPHA	1	487	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	85201				ORPHA	1	396	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	85201				ORPHA	1	487	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	396	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	487	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	396	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	487	17582	605880
HP:0000252	HP:0000252	Microcephaly	0	KATNB1 CL E G H	10300	616212	Lissencephaly 6, with microcephaly	616212	C4015525	OMIM	1	153	6217	602703
HP:0000252	HP:0000252	Microcephaly	0	KATNB1 CL E G H	10300	616212	Lissencephaly 6, with microcephaly	616212	C4015525	OMIM	1	169	6217	602703
HP:0000252	HP:0000252	Microcephaly	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	88	6229	601142
HP:0000252	HP:0000252	Microcephaly	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	91	6229	601142
HP:0000252	HP:0000252	Microcephaly	0	KCNJ11 CL E G H	3767	276580				ORPHA	1	301	6257	600937
HP:0000252	HP:0000252	Microcephaly	0	KCNJ11 CL E G H	3767	276580				ORPHA	1	322	6257	600937
HP:0000252	HP:0000252	Microcephaly	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	404	6263	600681
HP:0000252	HP:0000252	Microcephaly	0	KCNJ2 CL E G H	3759	170390	Andersen Tawil syndrome	170390	C1563715	OMIM	1	449	6263	600681
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	101	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	115	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	614098	Keppen-Lubinsky syndrome	614098	C3279800	OMIM	1	101	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	614098	Keppen-Lubinsky syndrome	614098	C3279800	OMIM	1	115	6267	600877
HP:0000252	HP:0000252	Microcephaly	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1303	18865	608167
HP:0000252	HP:0000252	Microcephaly	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	1476	18865	608167
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	2322				ORPHA	1	502	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	2322				ORPHA	1	562	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	502	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	562	12637	300128
HP:0000252	HP:0000252	Microcephaly	0	KDSR CL E G H	2531	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	93	4021	136440
HP:0000252	HP:0000252	Microcephaly	0	KDSR CL E G H	2531	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	96	4021	136440
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	2526				ORPHA	1	405	6388	148760
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	2526				ORPHA	1	498	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	405	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	498	6388	148760
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	2512				ORPHA	1	135	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	2512				ORPHA	1	151	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	616258	Meckel syndrome 12	616258	C4015701	OMIM	1	135	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	616258	Meckel syndrome 12	616258	C4015701	OMIM	1	151	19181	611279
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	2836				ORPHA	1	1441	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	2836				ORPHA	1	1735	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	1441	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	1	1735	888	601255
HP:0000252	HP:0000252	Microcephaly	0	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000252	HP:0000252	Microcephaly	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000252	HP:0000252	Microcephaly	0	KIF1C CL E G H	10749	397946				ORPHA	1	286	6317	603060
HP:0000252	HP:0000252	Microcephaly	0	KIF1C CL E G H	10749	397946				ORPHA	1	335	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	163	6318	602591
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	223	6318	602591
HP:0000252	HP:0000252	Microcephaly	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	369	6323	602821
HP:0000252	HP:0000252	Microcephaly	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	548	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	171	6325	604593
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	177	6325	604593
HP:0000252	HP:0000252	Microcephaly	0	KLHL7 CL E G H	55975	97297				ORPHA	1	176	15646	611119
HP:0000252	HP:0000252	Microcephaly	0	KLHL7 CL E G H	55975	97297				ORPHA	1	211	15646	611119
HP:0000252	HP:0000252	Microcephaly	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	673