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	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000252	HP:0000252	Microcephaly	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0000252	HP:0000252	Microcephaly	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0000252	HP:0000252	Microcephaly	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0000252	HP:0000252	Microcephaly	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0000252	HP:0000252	Microcephaly	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000252	HP:0000252	Microcephaly	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		90
HP:0000252	HP:0000252	Microcephaly	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.		111
HP:0000252	HP:0000252	Microcephaly	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0000252	HP:0000252	Microcephaly	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	25070	OMIM:616553	Dyskeratosis congenita, autosomal dominant 6	.		11
HP:0000252	HP:0000252	Microcephaly	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		11
HP:0000252	HP:0000252	Microcephaly	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.		113
HP:0000252	HP:0000252	Microcephaly	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000252	HP:0000252	Microcephaly	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0000252	HP:0000252	Microcephaly	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		72
HP:0000252	HP:0000252	Microcephaly	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000252	HP:0000252	Microcephaly	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent		123
HP:0000252	HP:0000252	Microcephaly	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000252	HP:0000252	Microcephaly	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0000252	HP:0000252	Microcephaly	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0000252	HP:0000252	Microcephaly	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects	.		2
HP:0000252	HP:0000252	Microcephaly	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000252	HP:0000252	Microcephaly	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0000252	HP:0000252	Microcephaly	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0000252	HP:0000252	Microcephaly	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	HP:0040283 - Occasional		116
HP:0000252	HP:0000252	Microcephaly	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000252	HP:0000252	Microcephaly	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040282 - Frequent		9
HP:0000252	HP:0000252	Microcephaly	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	ADD3 CL E G H	120	245	OMIM:617008	Cerebral palsy, spastic quadriplegic, 3			3
HP:0000252	HP:0000252	Microcephaly	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		88
HP:0000252	HP:0000252	Microcephaly	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0000252	HP:0000252	Microcephaly	0	ADH5 CL E G H	128	253	OMIM:619151	AMED SYNDROME, DIGENIC; AMEDS
HP:0000252	HP:0000252	Microcephaly	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0000252	HP:0000252	Microcephaly	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000252	HP:0000252	Microcephaly	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	HP:0040283 - Occasional		118
HP:0000252	HP:0000252	Microcephaly	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0000252	HP:0000252	Microcephaly	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0000252	HP:0000252	Microcephaly	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000252	HP:0000252	Microcephaly	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000252	HP:0000252	Microcephaly	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0000252	HP:0000252	Microcephaly	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0000252	HP:0000252	Microcephaly	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.		48
HP:0000252	HP:0000252	Microcephaly	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000252	HP:0000252	Microcephaly	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.		33
HP:0000252	HP:0000252	Microcephaly	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0000252	HP:0000252	Microcephaly	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		5
HP:0000252	HP:0000252	Microcephaly	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0000252	HP:0000252	Microcephaly	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0000252	HP:0000252	Microcephaly	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0000252	HP:0000252	Microcephaly	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040283 - Occasional		87
HP:0000252	HP:0000252	Microcephaly	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0000252	HP:0000252	Microcephaly	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0000252	HP:0000252	Microcephaly	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0000252	HP:0000252	Microcephaly	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	HP:0040283 - Occasional		41
HP:0000252	HP:0000252	Microcephaly	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000252	HP:0000252	Microcephaly	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000252	HP:0000252	Microcephaly	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0000252	HP:0000252	Microcephaly	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent		46
HP:0000252	HP:0000252	Microcephaly	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent		37
HP:0000252	HP:0000252	Microcephaly	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0000252	HP:0000252	Microcephaly	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000252	HP:0000252	Microcephaly	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0000252	HP:0000252	Microcephaly	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0000252	HP:0000252	Microcephaly	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.		132
HP:0000252	HP:0000252	Microcephaly	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000252	HP:0000252	Microcephaly	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent		150
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0000252	HP:0000252	Microcephaly	0	ANKLE2 CL E G H	23141	29101	OMIM:616681	Microcephaly 16, primary, autosomal recessive	.		3
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0000252	HP:0000252	Microcephaly	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000252	HP:0000252	Microcephaly	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000252	HP:0000252	Microcephaly	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0000252	HP:0000252	Microcephaly	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000252	HP:0000252	Microcephaly	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0000252	HP:0000252	Microcephaly	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		49
HP:0000252	HP:0000252	Microcephaly	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		48
HP:0000252	HP:0000252	Microcephaly	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		41
HP:0000252	HP:0000252	Microcephaly	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040281 - Very frequent		18
HP:0000252	HP:0000252	Microcephaly	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0000252	HP:0000252	Microcephaly	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0000252	HP:0000252	Microcephaly	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0000252	HP:0000252	Microcephaly	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0000252	HP:0000252	Microcephaly	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000252	HP:0000252	Microcephaly	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		88
HP:0000252	HP:0000252	Microcephaly	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040281 - Very frequent		219
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		219
HP:0000252	HP:0000252	Microcephaly	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000252	HP:0000252	Microcephaly	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		25
HP:0000252	HP:0000252	Microcephaly	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000252	HP:0000252	Microcephaly	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0000252	HP:0000252	Microcephaly	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	18060	ORPHA:2508	Corpus callosum agenesis-abnormal genitalia syndrome	HP:0040281 - Very frequent		166
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0000252	HP:0000252	Microcephaly	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040281 - Very frequent		166
HP:0000252	HP:0000252	Microcephaly	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000252	HP:0000252	Microcephaly	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0000252	HP:0000252	Microcephaly	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0000252	HP:0000252	Microcephaly	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.		512
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000252	HP:0000252	Microcephaly	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0000252	HP:0000252	Microcephaly	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent		49
HP:0000252	HP:0000252	Microcephaly	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000252	HP:0000252	Microcephaly	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0000252	HP:0000252	Microcephaly	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0000252	HP:0000252	Microcephaly	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000252	HP:0000252	Microcephaly	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0000252	HP:0000252	Microcephaly	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0000252	HP:0000252	Microcephaly	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0000252	HP:0000252	Microcephaly	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0000252	HP:0000252	Microcephaly	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0000252	HP:0000252	Microcephaly	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000252	HP:0000252	Microcephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000252	HP:0000252	Microcephaly	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000252	HP:0000252	Microcephaly	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0000252	HP:0000252	Microcephaly	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0000252	HP:0000252	Microcephaly	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		168
HP:0000252	HP:0000252	Microcephaly	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.		168
HP:0000252	HP:0000252	Microcephaly	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040281 - Very frequent		169
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000252	HP:0000252	Microcephaly	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000252	HP:0000252	Microcephaly	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0000252	HP:0000252	Microcephaly	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0000252	HP:0000252	Microcephaly	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0000252	HP:0000252	Microcephaly	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		43
HP:0000252	HP:0000252	Microcephaly	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000252	HP:0000252	Microcephaly	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000252	HP:0000252	Microcephaly	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		17
HP:0000252	HP:0000252	Microcephaly	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		28
HP:0000252	HP:0000252	Microcephaly	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		34
HP:0000252	HP:0000252	Microcephaly	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	16695	OMIM:300475	Deafness, dystonia, and cerebral hypomyelination	.		8
HP:0000252	HP:0000252	Microcephaly	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040282 - Frequent		8
HP:0000252	HP:0000252	Microcephaly	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000252	HP:0000252	Microcephaly	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000252	HP:0000252	Microcephaly	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		101
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000252	HP:0000252	Microcephaly	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000252	HP:0000252	Microcephaly	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000252	Microcephaly	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000252	Microcephaly	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0000252	HP:0000252	Microcephaly	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.		314
HP:0000252	HP:0000252	Microcephaly	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		16
HP:0000252	HP:0000252	Microcephaly	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional		38
HP:0000252	HP:0000252	Microcephaly	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000252	HP:0000252	Microcephaly	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000252	HP:0000252	Microcephaly	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000252	HP:0000252	Microcephaly	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0000252	HP:0000252	Microcephaly	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0000252	HP:0000252	Microcephaly	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0000252	HP:0000252	Microcephaly	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0000252	HP:0000252	Microcephaly	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1			7642
HP:0000252	HP:0000252	Microcephaly	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040281 - Very frequent		7
HP:0000252	HP:0000252	Microcephaly	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.		7
HP:0000252	HP:0000252	Microcephaly	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0000252	HP:0000252	Microcephaly	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	HP:0040283 - Occasional		10
HP:0000252	HP:0000252	Microcephaly	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		76
HP:0000252	HP:0000252	Microcephaly	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000252	HP:0000252	Microcephaly	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0000252	HP:0000252	Microcephaly	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0000252	HP:0000252	Microcephaly	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000252	HP:0000252	Microcephaly	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0000252	HP:0000252	Microcephaly	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000252	HP:0000252	Microcephaly	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	HP:0040284 - Very rare		32
HP:0000252	HP:0000252	Microcephaly	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0000252	HP:0000252	Microcephaly	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0000252	HP:0000252	Microcephaly	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000252	HP:0000252	Microcephaly	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000252	HP:0000252	Microcephaly	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000252	HP:0000252	Microcephaly	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000252	HP:0000252	Microcephaly	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0000252	HP:0000252	Microcephaly	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		247
HP:0000252	HP:0000252	Microcephaly	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0000252	HP:0000252	Microcephaly	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000252	HP:0000252	Microcephaly	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0000252	HP:0000252	Microcephaly	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000252	HP:0000252	Microcephaly	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000252	HP:0000252	Microcephaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000252	HP:0000252	Microcephaly	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000252	HP:0000252	Microcephaly	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000252	HP:0000252	Microcephaly	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000252	HP:0000252	Microcephaly	0	CDCA7 CL E G H	83879	14628	OMIM:616910	Immunodeficiency-Centromeric instability-facial anomalies syndrome 3			4
HP:0000252	HP:0000252	Microcephaly	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0000252	HP:0000252	Microcephaly	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0000252	HP:0000252	Microcephaly	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive	.		181
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0000252	HP:0000252	Microcephaly	0	CDK6 CL E G H	1021	1777	OMIM:616080	Microcephaly 12, primary, autosomal recessive	.		6
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000252	HP:0000252	Microcephaly	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000252	HP:0000252	Microcephaly	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		200
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000252	HP:0000252	Microcephaly	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0000252	HP:0000252	Microcephaly	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0000252	HP:0000252	Microcephaly	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		20
HP:0000252	HP:0000252	Microcephaly	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	17272	OMIM:608393	Microcephaly, primary autosomal recessive, 6	.		161
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		161
HP:0000252	HP:0000252	Microcephaly	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0000252	HP:0000252	Microcephaly	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0000252	HP:0000252	Microcephaly	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.		38
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	29298	OMIM:614852	Microcephaly 9, primary, autosomal recessive	.		146
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		146
HP:0000252	HP:0000252	Microcephaly	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0000252	HP:0000252	Microcephaly	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		342
HP:0000252	HP:0000252	Microcephaly	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	HP:0040283 - Occasional		342
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		17
HP:0000252	HP:0000252	Microcephaly	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0000252	HP:0000252	Microcephaly	0	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6	.		31
HP:0000252	HP:0000252	Microcephaly	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000252	HP:0000252	Microcephaly	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0000252	HP:0000252	Microcephaly	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	HP:0040283 - Occasional		16
HP:0000252	HP:0000252	Microcephaly	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0000252	HP:0000252	Microcephaly	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000252	HP:0000252	Microcephaly	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0000252	HP:0000252	Microcephaly	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000252	HP:0000252	Microcephaly	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0000252	HP:0000252	Microcephaly	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000252	HP:0000252	Microcephaly	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000252	HP:0000252	Microcephaly	0	CHRNA7 CL E G H	1139	1960	ORPHA:199318	15q13.3 microdeletion syndrome	HP:0040283 - Occasional		52
HP:0000252	HP:0000252	Microcephaly	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		68
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0000252	HP:0000252	Microcephaly	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent		7
HP:0000252	HP:0000252	Microcephaly	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0000252	HP:0000252	Microcephaly	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000252	HP:0000252	Microcephaly	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000252	HP:0000252	Microcephaly	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000252	HP:0000252	Microcephaly	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000252	HP:0000252	Microcephaly	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0000252	HP:0000252	Microcephaly	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.		38
HP:0000252	HP:0000252	Microcephaly	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0000252	HP:0000252	Microcephaly	0	CLPP CL E G H	8192	2084	OMIM:614129	Perrault syndrome 3	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000252	HP:0000252	Microcephaly	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0000252	HP:0000252	Microcephaly	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.		47
HP:0000252	HP:0000252	Microcephaly	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000252	HP:0000252	Microcephaly	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000252	HP:0000252	Microcephaly	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0000252	HP:0000252	Microcephaly	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.		16
HP:0000252	HP:0000252	Microcephaly	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000252	HP:0000252	Microcephaly	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000252	HP:0000252	Microcephaly	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG			2
HP:0000252	HP:0000252	Microcephaly	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq			2
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0000252	HP:0000252	Microcephaly	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent		67
HP:0000252	HP:0000252	Microcephaly	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent		79
HP:0000252	HP:0000252	Microcephaly	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I			79
HP:0000252	HP:0000252	Microcephaly	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0000252	HP:0000252	Microcephaly	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0000252	HP:0000252	Microcephaly	0	COG6 CL E G H	57511	18621	OMIM:615328	Shaheen syndrome	HP:0040283 - Occasional		71
HP:0000252	HP:0000252	Microcephaly	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000252	HP:0000252	Microcephaly	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000252	HP:0000252	Microcephaly	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000252	HP:0000252	Microcephaly	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0000252	HP:0000252	Microcephaly	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000252	HP:0000252	Microcephaly	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		193
HP:0000252	HP:0000252	Microcephaly	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0000252	HP:0000252	Microcephaly	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0000252	HP:0000252	Microcephaly	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.		104
HP:0000252	HP:0000252	Microcephaly	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040280 - Obligate		6
HP:0000252	HP:0000252	Microcephaly	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0000252	HP:0000252	Microcephaly	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0000252	HP:0000252	Microcephaly	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000252	HP:0000252	Microcephaly	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0000252	HP:0000252	Microcephaly	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0000252	HP:0000252	Microcephaly	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000252	HP:0000252	Microcephaly	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0000252	HP:0000252	Microcephaly	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		57
HP:0000252	HP:0000252	Microcephaly	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000252	HP:0000252	Microcephaly	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0000252	HP:0000252	Microcephaly	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000252	HP:0000252	Microcephaly	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0000252	HP:0000252	Microcephaly	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040281 - Very frequent		88
HP:0000252	HP:0000252	Microcephaly	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0000252	HP:0000252	Microcephaly	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0000252	HP:0000252	Microcephaly	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0000252	HP:0000252	Microcephaly	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0000252	HP:0000252	Microcephaly	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040283 - Occasional		38
HP:0000252	HP:0000252	Microcephaly	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040283 - Occasional		24
HP:0000252	HP:0000252	Microcephaly	0	CYB5R3 CL E G H	1727	2873	OMIM:250800	Methemoglobinemia due to deficiency of methemoglobin reductase	.		24
HP:0000252	HP:0000252	Microcephaly	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0000252	HP:0000252	Microcephaly	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		108
HP:0000252	HP:0000252	Microcephaly	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000252	HP:0000252	Microcephaly	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0000252	HP:0000252	Microcephaly	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0000252	HP:0000252	Microcephaly	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0000252	HP:0000252	Microcephaly	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0000252	HP:0000252	Microcephaly	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0000252	HP:0000252	Microcephaly	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000252	HP:0000252	Microcephaly	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent		57
HP:0000252	HP:0000252	Microcephaly	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000252	HP:0000252	Microcephaly	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000252	HP:0000252	Microcephaly	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent		33
HP:0000252	HP:0000252	Microcephaly	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		33
HP:0000252	HP:0000252	Microcephaly	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000252	HP:0000252	Microcephaly	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0000252	HP:0000252	Microcephaly	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0000252	HP:0000252	Microcephaly	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0000252	HP:0000252	Microcephaly	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0000252	HP:0000252	Microcephaly	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000252	HP:0000252	Microcephaly	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0000252	HP:0000252	Microcephaly	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0000252	HP:0000252	Microcephaly	0	DHTKD1 CL E G H	55526	23537	OMIM:204750	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD			12
HP:0000252	HP:0000252	Microcephaly	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0000252	HP:0000252	Microcephaly	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000252	HP:0000252	Microcephaly	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0000252	HP:0000252	Microcephaly	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			2
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000252	HP:0000252	Microcephaly	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		22
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0000252	HP:0000252	Microcephaly	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		65
HP:0000252	HP:0000252	Microcephaly	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0000252	HP:0000252	Microcephaly	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0000252	HP:0000252	Microcephaly	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0000252	HP:0000252	Microcephaly	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0000252	HP:0000252	Microcephaly	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.		41
HP:0000252	HP:0000252	Microcephaly	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0000252	HP:0000252	Microcephaly	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0000252	HP:0000252	Microcephaly	0	DNMT3A CL E G H	1788	2978	OMIM:618724	HEYN-SPROUL-JACKSON SYNDROME; HESJAS			44
HP:0000252	HP:0000252	Microcephaly	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0000252	HP:0000252	Microcephaly	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000252	HP:0000252	Microcephaly	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0000252	HP:0000252	Microcephaly	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000252	HP:0000252	Microcephaly	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.		9
HP:0000252	HP:0000252	Microcephaly	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0000252	HP:0000252	Microcephaly	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000252	HP:0000252	Microcephaly	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0000252	HP:0000252	Microcephaly	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000252	HP:0000252	Microcephaly	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000252	HP:0000252	Microcephaly	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0000252	HP:0000252	Microcephaly	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	3010	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040281 - Very frequent		18
HP:0000252	HP:0000252	Microcephaly	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000252	HP:0000252	Microcephaly	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000252	HP:0000252	Microcephaly	0	DPYD CL E G H	1806	3012	OMIM:274270	Dihydropyrimidine dehydrogenase deficiency	.		144
HP:0000252	HP:0000252	Microcephaly	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0000252	HP:0000252	Microcephaly	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0000252	HP:0000252	Microcephaly	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0000252	HP:0000252	Microcephaly	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	HP:0040283 - Occasional		427
HP:0000252	HP:0000252	Microcephaly	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0000252	HP:0000252	Microcephaly	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent		134
HP:0000252	HP:0000252	Microcephaly	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0000252	HP:0000252	Microcephaly	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000252	HP:0000252	Microcephaly	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000252	HP:0000252	Microcephaly	0	EDC3 CL E G H	80153	26114	OMIM:616460	Mental retardation, autosomal recessive 50	.		1
HP:0000252	HP:0000252	Microcephaly	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0000252	HP:0000252	Microcephaly	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000252	HP:0000252	Microcephaly	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0000252	HP:0000252	Microcephaly	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0000252	HP:0000252	Microcephaly	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0000252	HP:0000252	Microcephaly	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000252	HP:0000252	Microcephaly	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0000252	HP:0000252	Microcephaly	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		223
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0000252	HP:0000252	Microcephaly	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0000252	HP:0000252	Microcephaly	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000252	HP:0000252	Microcephaly	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000252	HP:0000252	Microcephaly	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000252	HP:0000252	Microcephaly	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000252	HP:0000252	Microcephaly	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000252	HP:0000252	Microcephaly	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000252	HP:0000252	Microcephaly	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent		8
HP:0000252	HP:0000252	Microcephaly	0	EIF3F CL E G H	8665	3275	OMIM:618295	Intellectual developmental disorder, autosomal recessive 67
HP:0000252	HP:0000252	Microcephaly	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000252	HP:0000252	Microcephaly	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	HP:0040283 - Occasional		67
HP:0000252	HP:0000252	Microcephaly	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0000252	HP:0000252	Microcephaly	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000252	HP:0000252	Microcephaly	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0000252	HP:0000252	Microcephaly	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000252	HP:0000252	Microcephaly	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.		2
HP:0000252	HP:0000252	Microcephaly	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0000252	HP:0000252	Microcephaly	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	ENTPD1 CL E G H	953	3363	OMIM:615683	Spastic paraplegia 64, autosomal recessive			3
HP:0000252	HP:0000252	Microcephaly	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome			7
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0000252	HP:0000252	Microcephaly	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0000252	HP:0000252	Microcephaly	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000252	HP:0000252	Microcephaly	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0000252	HP:0000252	Microcephaly	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2			106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0000252	HP:0000252	Microcephaly	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional		83
HP:0000252	HP:0000252	Microcephaly	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0000252	HP:0000252	Microcephaly	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0000252	HP:0000252	Microcephaly	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.		4
HP:0000252	HP:0000252	Microcephaly	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0000252	HP:0000252	Microcephaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040281 - Very frequent		92
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000252	HP:0000252	Microcephaly	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent		92
HP:0000252	HP:0000252	Microcephaly	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000252	HP:0000252	Microcephaly	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000252	HP:0000252	Microcephaly	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0000252	HP:0000252	Microcephaly	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000252	HP:0000252	Microcephaly	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000252	HP:0000252	Microcephaly	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0000252	HP:0000252	Microcephaly	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000252	HP:0000252	Microcephaly	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000252	HP:0000252	Microcephaly	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000252	HP:0000252	Microcephaly	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0000252	HP:0000252	Microcephaly	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		96
HP:0000252	HP:0000252	Microcephaly	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0000252	HP:0000252	Microcephaly	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0000252	HP:0000252	Microcephaly	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0000252	HP:0000252	Microcephaly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0000252	HP:0000252	Microcephaly	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.		35
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0000252	HP:0000252	Microcephaly	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0000252	HP:0000252	Microcephaly	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0000252	HP:0000252	Microcephaly	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.		410
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0000252	HP:0000252	Microcephaly	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0000252	HP:0000252	Microcephaly	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0000252	HP:0000252	Microcephaly	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0000252	HP:0000252	Microcephaly	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0000252	HP:0000252	Microcephaly	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0000252	HP:0000252	Microcephaly	0	FANCG CL E G H	2189	3588	OMIM:614082	FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG			73
HP:0000252	HP:0000252	Microcephaly	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0000252	HP:0000252	Microcephaly	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0000252	HP:0000252	Microcephaly	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0000252	HP:0000252	Microcephaly	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0000252	HP:0000252	Microcephaly	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000252	HP:0000252	Microcephaly	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000252	HP:0000252	Microcephaly	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0000252	HP:0000252	Microcephaly	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000252	HP:0000252	Microcephaly	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0000252	HP:0000252	Microcephaly	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0000252	HP:0000252	Microcephaly	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0000252	HP:0000252	Microcephaly	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0000252	HP:0000252	Microcephaly	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0000252	HP:0000252	Microcephaly	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0000252	HP:0000252	Microcephaly	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000252	HP:0000252	Microcephaly	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000252	HP:0000252	Microcephaly	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0000252	HP:0000252	Microcephaly	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000252	HP:0000252	Microcephaly	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		17
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000252	HP:0000252	Microcephaly	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.		172
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	3690	OMIM:610474	Camptodactyly, tall stature, and hearing loss syndrome	.		145
HP:0000252	HP:0000252	Microcephaly	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0000252	HP:0000252	Microcephaly	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000252	HP:0000252	Microcephaly	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000252	HP:0000252	Microcephaly	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000252	HP:0000252	Microcephaly	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		157
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		157
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0000252	HP:0000252	Microcephaly	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		157
HP:0000252	HP:0000252	Microcephaly	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		184
HP:0000252	HP:0000252	Microcephaly	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000252	HP:0000252	Microcephaly	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		184
HP:0000252	HP:0000252	Microcephaly	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000252	HP:0000252	Microcephaly	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0000252	HP:0000252	Microcephaly	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000252	HP:0000252	Microcephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		48
HP:0000252	HP:0000252	Microcephaly	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0000252	HP:0000252	Microcephaly	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0000252	HP:0000252	Microcephaly	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000252	HP:0000252	Microcephaly	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0000252	HP:0000252	Microcephaly	0	FREM1 CL E G H	158326	23399	OMIM:614485	Trigonocephaly 2	HP:0040283 - Occasional		198
HP:0000252	HP:0000252	Microcephaly	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0000252	HP:0000252	Microcephaly	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000252	HP:0000252	Microcephaly	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		50
HP:0000252	HP:0000252	Microcephaly	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0000252	HP:0000252	Microcephaly	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0000252	HP:0000252	Microcephaly	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0000252	HP:0000252	Microcephaly	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000252	HP:0000252	Microcephaly	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.		5
HP:0000252	HP:0000252	Microcephaly	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000252	HP:0000252	Microcephaly	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000252	HP:0000252	Microcephaly	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0000252	HP:0000252	Microcephaly	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0000252	HP:0000252	Microcephaly	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000252	HP:0000252	Microcephaly	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0000252	HP:0000252	Microcephaly	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0000252	HP:0000252	Microcephaly	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0000252	HP:0000252	Microcephaly	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0000252	HP:0000252	Microcephaly	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	HP:0040283 - Occasional		37
HP:0000252	HP:0000252	Microcephaly	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000252	HP:0000252	Microcephaly	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0000252	HP:0000252	Microcephaly	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0000252	HP:0000252	Microcephaly	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0000252	HP:0000252	Microcephaly	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	HP:0040284 - Very rare		43
HP:0000252	HP:0000252	Microcephaly	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		68
HP:0000252	HP:0000252	Microcephaly	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0000252	HP:0000252	Microcephaly	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0000252	HP:0000252	Microcephaly	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0000252	HP:0000252	Microcephaly	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		74
HP:0000252	HP:0000252	Microcephaly	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		12
HP:0000252	HP:0000252	Microcephaly	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	HP:0040284 - Very rare		45
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000252	HP:0000252	Microcephaly	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		173
HP:0000252	HP:0000252	Microcephaly	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000252	HP:0000252	Microcephaly	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0000252	HP:0000252	Microcephaly	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0000252	HP:0000252	Microcephaly	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000252	HP:0000252	Microcephaly	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6	.		3
HP:0000252	HP:0000252	Microcephaly	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0000252	HP:0000252	Microcephaly	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0000252	HP:0000252	Microcephaly	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	HP:0040284 - Very rare		36
HP:0000252	HP:0000252	Microcephaly	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0000252	HP:0000252	Microcephaly	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000252	HP:0000252	Microcephaly	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0000252	HP:0000252	Microcephaly	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000252	HP:0000252	Microcephaly	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0000252	HP:0000252	Microcephaly	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0000252	Microcephaly	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0000252	HP:0000252	Microcephaly	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0000252	HP:0000252	Microcephaly	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000252	HP:0000252	Microcephaly	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0000252	HP:0000252	Microcephaly	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0000252	HP:0000252	Microcephaly	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0000252	HP:0000252	Microcephaly	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	HP:0040284 - Very rare		108
HP:0000252	HP:0000252	Microcephaly	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0000252	HP:0000252	Microcephaly	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0000252	HP:0000252	Microcephaly	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	HP:0040284 - Very rare		274
HP:0000252	HP:0000252	Microcephaly	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures	HP:0040284 - Very rare		274
HP:0000252	HP:0000252	Microcephaly	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0000252	HP:0000252	Microcephaly	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0000252	HP:0000252	Microcephaly	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000252	HP:0000252	Microcephaly	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000252	HP:0000252	Microcephaly	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive	.		2
HP:0000252	HP:0000252	Microcephaly	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000252	HP:0000252	Microcephaly	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000252	HP:0000252	Microcephaly	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000252	HP:0000252	Microcephaly	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000252	HP:0000252	Microcephaly	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0000252	HP:0000252	Microcephaly	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0000252	HP:0000252	Microcephaly	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0000252	HP:0000252	Microcephaly	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0000252	HP:0000252	Microcephaly	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0000252	HP:0000252	Microcephaly	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000252	HP:0000252	Microcephaly	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0000252	HP:0000252	Microcephaly	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.		100
HP:0000252	HP:0000252	Microcephaly	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10			54
HP:0000252	HP:0000252	Microcephaly	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent		33
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0000252	HP:0000252	Microcephaly	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0000252	HP:0000252	Microcephaly	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000252	HP:0000252	Microcephaly	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0000252	HP:0000252	Microcephaly	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0000252	HP:0000252	Microcephaly	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	HMGB3 CL E G H	3149	5004	OMIM:300915	Microphthalmia, syndromic 13	.		2
HP:0000252	HP:0000252	Microcephaly	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0000252	HP:0000252	Microcephaly	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	HP:0040284 - Very rare		35
HP:0000252	HP:0000252	Microcephaly	0	HNMT CL E G H	3176	5028	OMIM:616739	Mental retardation, autosomal recessive 51	.		3
HP:0000252	HP:0000252	Microcephaly	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000252	HP:0000252	Microcephaly	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000252	HP:0000252	Microcephaly	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0000252	HP:0000252	Microcephaly	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0000252	HP:0000252	Microcephaly	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0000252	HP:0000252	Microcephaly	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.		39
HP:0000252	HP:0000252	Microcephaly	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000252	HP:0000252	Microcephaly	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000252	HP:0000252	Microcephaly	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0000252	HP:0000252	Microcephaly	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000252	HP:0000252	Microcephaly	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0000252	HP:0000252	Microcephaly	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0000252	HP:0000252	Microcephaly	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0000252	HP:0000252	Microcephaly	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000252	HP:0000252	Microcephaly	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0000252	HP:0000252	Microcephaly	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000252	HP:0000252	Microcephaly	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0000252	HP:0000252	Microcephaly	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0000252	HP:0000252	Microcephaly	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0000252	HP:0000252	Microcephaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040283 - Occasional		148
HP:0000252	HP:0000252	Microcephaly	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent		91
HP:0000252	HP:0000252	Microcephaly	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent		268
HP:0000252	HP:0000252	Microcephaly	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000252	HP:0000252	Microcephaly	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0000252	HP:0000252	Microcephaly	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0000252	HP:0000252	Microcephaly	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional		229
HP:0000252	HP:0000252	Microcephaly	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS			2
HP:0000252	HP:0000252	Microcephaly	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000252	HP:0000252	Microcephaly	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000252	HP:0000252	Microcephaly	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0000252	HP:0000252	Microcephaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000252	HP:0000252	Microcephaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		119
HP:0000252	HP:0000252	Microcephaly	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.		6
HP:0000252	HP:0000252	Microcephaly	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		8
HP:0000252	HP:0000252	Microcephaly	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0000252	HP:0000252	Microcephaly	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0000252	HP:0000252	Microcephaly	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040284 - Very rare		283
HP:0000252	HP:0000252	Microcephaly	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000252	HP:0000252	Microcephaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040284 - Very rare		283
HP:0000252	HP:0000252	Microcephaly	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000252	HP:0000252	Microcephaly	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000252	HP:0000252	Microcephaly	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent		34
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent		141
HP:0000252	HP:0000252	Microcephaly	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0000252	HP:0000252	Microcephaly	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000252	HP:0000252	Microcephaly	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000252	HP:0000252	Microcephaly	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0000252	HP:0000252	Microcephaly	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0000252	HP:0000252	Microcephaly	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0000252	HP:0000252	Microcephaly	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0000252	HP:0000252	Microcephaly	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.		193
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0000252	HP:0000252	Microcephaly	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0000252	HP:0000252	Microcephaly	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16			114
HP:0000252	HP:0000252	Microcephaly	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000252	HP:0000252	Microcephaly	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.		321
HP:0000252	HP:0000252	Microcephaly	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0000252	HP:0000252	Microcephaly	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0000252	HP:0000252	Microcephaly	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000252	HP:0000252	Microcephaly	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional		81
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000252	HP:0000252	Microcephaly	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0000252	HP:0000252	Microcephaly	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040281 - Very frequent		4
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000252	HP:0000252	Microcephaly	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040281 - Very frequent		46
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0000252	HP:0000252	Microcephaly	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0000252	HP:0000252	Microcephaly	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000252	HP:0000252	Microcephaly	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0000252	HP:0000252	Microcephaly	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0000252	HP:0000252	Microcephaly	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0000252	HP:0000252	Microcephaly	0	KIF2A CL E G H	3796	6318	OMIM:615411	Cortical dysplasia, complex, with other brain malformations 3	.		15
HP:0000252	HP:0000252	Microcephaly	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0000252	HP:0000252	Microcephaly	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0000252	HP:0000252	Microcephaly	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0000252	HP:0000252	Microcephaly	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional		91
HP:0000252	HP:0000252	Microcephaly	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000252	HP:0000252	Microcephaly	0	KMT2B CL E G H	9757	15840	ORPHA:589618	Dystonia 28			11
HP:0000252	HP:0000252	Microcephaly	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0000252	HP:0000252	Microcephaly	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2	.		99
HP:0000252	HP:0000252	Microcephaly	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional		99
HP:0000252	HP:0000252	Microcephaly	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0000252	HP:0000252	Microcephaly	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000252	HP:0000252	Microcephaly	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0000252	HP:0000252	Microcephaly	0	KNL1 CL E G H	57082	24054	OMIM:604321	Microcephaly 4, primary, autosomal recessive	.		112
HP:0000252	HP:0000252	Microcephaly	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.		134
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0000252	HP:0000252	Microcephaly	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis	HP:0040282 - Frequent		134
HP:0000252	HP:0000252	Microcephaly	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000252	HP:0000252	Microcephaly	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000252	HP:0000252	Microcephaly	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0000252	HP:0000252	Microcephaly	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000252	HP:0000252	Microcephaly	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		136
HP:0000252	HP:0000252	Microcephaly	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0000252	HP:0000252	Microcephaly	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0000252	HP:0000252	Microcephaly	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS			8
HP:0000252	HP:0000252	Microcephaly	0	LDHD CL E G H	197257	19708	OMIM:245450	LACTIC ACIDURIA DUE TO D-LACTIC ACID	.
HP:0000252	HP:0000252	Microcephaly	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000252	HP:0000252	Microcephaly	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0000252	HP:0000252	Microcephaly	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000252	HP:0000252	Microcephaly	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000252	HP:0000252	Microcephaly	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0000252	HP:0000252	Microcephaly	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		88
HP:0000252	HP:0000252	Microcephaly	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		88
HP:0000252	HP:0000252	Microcephaly	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.		88
HP:0000252	HP:0000252	Microcephaly	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0000252	HP:0000252	Microcephaly	0	LINS1 CL E G H	55180	30922	OMIM:614340	Mental retardation, autosomal recessive 27	HP:0040283 - Occasional		25
HP:0000252	HP:0000252	Microcephaly	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0000252	HP:0000252	Microcephaly	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000252	HP:0000252	Microcephaly	0	LMNB1 CL E G H	4001	6637	ORPHA:2514	Autosomal dominant primary microcephaly	HP:0040281 - Very frequent		44
HP:0000252	HP:0000252	Microcephaly	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000252	HP:0000252	Microcephaly	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0000252	HP:0000252	Microcephaly	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		165
HP:0000252	HP:0000252	Microcephaly	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000252	HP:0000252	Microcephaly	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0000252	HP:0000252	Microcephaly	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	LSS CL E G H	4047	6708	OMIM:618840	ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4			2
HP:0000252	HP:0000252	Microcephaly	0	LTC4S CL E G H	4056	6719	OMIM:614037	LEUKOTRIENE C4 SYNTHASE DEFICIENCY			1
HP:0000252	HP:0000252	Microcephaly	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	MAD2L2 CL E G H	10459	6764	OMIM:617243	Fanconi anemia, complementation group V	.		1
HP:0000252	HP:0000252	Microcephaly	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000252	HP:0000252	Microcephaly	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000252	HP:0000252	Microcephaly	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000252	HP:0000252	Microcephaly	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000252	HP:0000252	Microcephaly	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0000252	HP:0000252	Microcephaly	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0000252	HP:0000252	Microcephaly	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000252	HP:0000252	Microcephaly	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0000252	HP:0000252	Microcephaly	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0000252	HP:0000252	Microcephaly	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0000252	HP:0000252	Microcephaly	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0000252	HP:0000252	Microcephaly	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.		2
HP:0000252	HP:0000252	Microcephaly	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0000252	HP:0000252	Microcephaly	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional		78
HP:0000252	HP:0000252	Microcephaly	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0000252	HP:0000252	Microcephaly	0	MCPH1 CL E G H	79648	6954	OMIM:251200	Microcephaly, primary autosomal recessive, 1	.		155
HP:0000252	HP:0000252	Microcephaly	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0000252	HP:0000252	Microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome			950
HP:0000252	HP:0000252	Microcephaly	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0000252	HP:0000252	Microcephaly	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0000252	HP:0000252	Microcephaly	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0000252	HP:0000252	Microcephaly	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000252	HP:0000252	Microcephaly	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent		7
HP:0000252	HP:0000252	Microcephaly	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0000252	HP:0000252	Microcephaly	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000252	HP:0000252	Microcephaly	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000252	HP:0000252	Microcephaly	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0000252	HP:0000252	Microcephaly	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000252	HP:0000252	Microcephaly	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0000252	HP:0000252	Microcephaly	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0000252	HP:0000252	Microcephaly	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000252	HP:0000252	Microcephaly	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000252	HP:0000252	Microcephaly	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional		11
HP:0000252	HP:0000252	Microcephaly	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040284 - Very rare		11
HP:0000252	HP:0000252	Microcephaly	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000252	HP:0000252	Microcephaly	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0000252	HP:0000252	Microcephaly	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000252	HP:0000252	Microcephaly	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		127
HP:0000252	HP:0000252	Microcephaly	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0000252	HP:0000252	Microcephaly	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0000252	HP:0000252	Microcephaly	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000252	HP:0000252	Microcephaly	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0000252	HP:0000252	Microcephaly	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0000252	HP:0000252	Microcephaly	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare		8
HP:0000252	HP:0000252	Microcephaly	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0000252	HP:0000252	Microcephaly	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000252	HP:0000252	Microcephaly	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	.		32
HP:0000252	HP:0000252	Microcephaly	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.		9
HP:0000252	HP:0000252	Microcephaly	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		25
HP:0000252	HP:0000252	Microcephaly	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0000252	HP:0000252	Microcephaly	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0000252	HP:0000252	Microcephaly	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000252	HP:0000252	Microcephaly	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis			3
HP:0000252	HP:0000252	Microcephaly	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000252	HP:0000252	Microcephaly	0	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity	.		183
HP:0000252	HP:0000252	Microcephaly	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare		183
HP:0000252	HP:0000252	Microcephaly	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0000252	HP:0000252	Microcephaly	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0000252	HP:0000252	Microcephaly	0	MTSS2 CL E G H	92154	25094	OMIM:620086
HP:0000252	HP:0000252	Microcephaly	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0000252	HP:0000252	Microcephaly	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0000252	HP:0000252	Microcephaly	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0000252	HP:0000252	Microcephaly	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040281 - Very frequent		35
HP:0000252	HP:0000252	Microcephaly	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0000252	HP:0000252	Microcephaly	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040282 - Frequent		166
HP:0000252	HP:0000252	Microcephaly	0	MYH3 CL E G H	4621	7573	OMIM:178110	Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A	HP:0040284 - Very rare		166
HP:0000252	HP:0000252	Microcephaly	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000252	HP:0000252	Microcephaly	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000252	Microcephaly	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000252	HP:0000252	Microcephaly	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent		23
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000252	HP:0000252	Microcephaly	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000252	HP:0000252	Microcephaly	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0000252	HP:0000252	Microcephaly	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000252	HP:0000252	Microcephaly	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000252	HP:0000252	Microcephaly	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0000252	HP:0000252	Microcephaly	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000252	HP:0000252	Microcephaly	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000252	HP:0000252	Microcephaly	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.		8
HP:0000252	HP:0000252	Microcephaly	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000252	HP:0000252	Microcephaly	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0000252	HP:0000252	Microcephaly	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000252	HP:0000252	Microcephaly	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000252	HP:0000252	Microcephaly	0	NAT8L CL E G H	339983	26742	OMIM:614063	N-ACETYLASPARTATE DEFICIENCY	.		1
HP:0000252	HP:0000252	Microcephaly	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0000252	HP:0000252	Microcephaly	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0000252	HP:0000252	Microcephaly	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0000252	HP:0000252	Microcephaly	0	NCAPD2 CL E G H	9918	24305	OMIM:617983	Microcephaly 21, primary, autosomal recessive	.
HP:0000252	HP:0000252	Microcephaly	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	NCAPD3 CL E G H	23310	28952	OMIM:617984	Microcephaly 22, primary, autosomal recessive	.		1
HP:0000252	HP:0000252	Microcephaly	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000252	HP:0000252	Microcephaly	0	NCAPH CL E G H	23397	1112	OMIM:617985	Microcephaly 23, primary, autosomal recessive	.
HP:0000252	HP:0000252	Microcephaly	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000252	HP:0000252	Microcephaly	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4	.		96
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000252	HP:0000252	Microcephaly	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0000252	HP:0000252	Microcephaly	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000252	HP:0000252	Microcephaly	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0000252	HP:0000252	Microcephaly	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0000252	HP:0000252	Microcephaly	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0000252	HP:0000252	Microcephaly	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0000252	HP:0000252	Microcephaly	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000252	HP:0000252	Microcephaly	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0000252	HP:0000252	Microcephaly	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000252	HP:0000252	Microcephaly	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0000252	HP:0000252	Microcephaly	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0000252	HP:0000252	Microcephaly	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000252	HP:0000252	Microcephaly	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000252	HP:0000252	Microcephaly	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0000252	HP:0000252	Microcephaly	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0000252	HP:0000252	Microcephaly	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0000252	HP:0000252	Microcephaly	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0000252	HP:0000252	Microcephaly	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000252	HP:0000252	Microcephaly	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	.		27
HP:0000252	HP:0000252	Microcephaly	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	NEK9 CL E G H	91754	18591	ORPHA:64754	Nevus comedonicus syndrome	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000252	HP:0000252	Microcephaly	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0000252	HP:0000252	Microcephaly	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040282 - Frequent		1952
HP:0000252	HP:0000252	Microcephaly	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040281 - Very frequent		40
HP:0000252	HP:0000252	Microcephaly	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0000252	HP:0000252	Microcephaly	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0000252	HP:0000252	Microcephaly	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent		20
HP:0000252	HP:0000252	Microcephaly	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0000252	HP:0000252	Microcephaly	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent		55
HP:0000252	HP:0000252	Microcephaly	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.		55
HP:0000252	HP:0000252	Microcephaly	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		117
HP:0000252	HP:0000252	Microcephaly	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0000252	HP:0000252	Microcephaly	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000252	HP:0000252	Microcephaly	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0000252	HP:0000252	Microcephaly	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000252	HP:0000252	Microcephaly	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		45
HP:0000252	HP:0000252	Microcephaly	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0000252	HP:0000252	Microcephaly	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		38
HP:0000252	HP:0000252	Microcephaly	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000252	HP:0000252	Microcephaly	0	NSD1 CL E G H	64324	14234	ORPHA:228415	5q35 microduplication syndrome	HP:0040281 - Very frequent		544
HP:0000252	HP:0000252	Microcephaly	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000252	HP:0000252	Microcephaly	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000252	HP:0000252	Microcephaly	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000252	HP:0000252	Microcephaly	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000252	HP:0000252	Microcephaly	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0000252	HP:0000252	Microcephaly	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0000252	HP:0000252	Microcephaly	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0000252	HP:0000252	Microcephaly	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000252	HP:0000252	Microcephaly	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040281 - Very frequent		84
HP:0000252	HP:0000252	Microcephaly	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000252	HP:0000252	Microcephaly	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0000252	HP:0000252	Microcephaly	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000252	HP:0000252	Microcephaly	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000252	HP:0000252	Microcephaly	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0000252	HP:0000252	Microcephaly	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		5
HP:0000252	HP:0000252	Microcephaly	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0000252	HP:0000252	Microcephaly	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0000252	HP:0000252	Microcephaly	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.		1
HP:0000252	HP:0000252	Microcephaly	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000252	HP:0000252	Microcephaly	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0000252	HP:0000252	Microcephaly	0	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive	.
HP:0000252	HP:0000252	Microcephaly	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0000252	HP:0000252	Microcephaly	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0000252	HP:0000252	Microcephaly	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000252	HP:0000252	Microcephaly	0	OCLN CL E G H	100506658	8104	ORPHA:1229	Congenital intrauterine infection-like syndrome	HP:0040281 - Very frequent		23
HP:0000252	HP:0000252	Microcephaly	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0000252	HP:0000252	Microcephaly	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000252	HP:0000252	Microcephaly	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000252	HP:0000252	Microcephaly	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000252	HP:0000252	Microcephaly	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0000252	HP:0000252	Microcephaly	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000252	HP:0000252	Microcephaly	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000252	HP:0000252	Microcephaly	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000252	HP:0000252	Microcephaly	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000252	HP:0000252	Microcephaly	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000252	HP:0000252	Microcephaly	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000252	HP:0000252	Microcephaly	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000252	HP:0000252	Microcephaly	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0000252	Microcephaly	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000252	HP:0000252	Microcephaly	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0000252	HP:0000252	Microcephaly	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1			231
HP:0000252	HP:0000252	Microcephaly	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0000252	HP:0000252	Microcephaly	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent		641
HP:0000252	HP:0000252	Microcephaly	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0000252	HP:0000252	Microcephaly	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000252	HP:0000252	Microcephaly	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0000252	HP:0000252	Microcephaly	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.		1349
HP:0000252	HP:0000252	Microcephaly	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0000252	HP:0000252	Microcephaly	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	.		26
HP:0000252	HP:0000252	Microcephaly	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		26
HP:0000252	HP:0000252	Microcephaly	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000252	HP:0000252	Microcephaly	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent		59
HP:0000252	HP:0000252	Microcephaly	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0000252	HP:0000252	Microcephaly	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000252	HP:0000252	Microcephaly	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000252	HP:0000252	Microcephaly	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000252	HP:0000252	Microcephaly	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000252	HP:0000252	Microcephaly	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000252	HP:0000252	Microcephaly	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent		531
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000252	HP:0000252	Microcephaly	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		531
HP:0000252	HP:0000252	Microcephaly	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000252	HP:0000252	Microcephaly	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000252	HP:0000252	Microcephaly	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		9
HP:0000252	HP:0000252	Microcephaly	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		28
HP:0000252	HP:0000252	Microcephaly	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0000252	HP:0000252	Microcephaly	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0000252	HP:0000252	Microcephaly	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.		98
HP:0000252	HP:0000252	Microcephaly	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional		98
HP:0000252	HP:0000252	Microcephaly	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000252	HP:0000252	Microcephaly	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000252	HP:0000252	Microcephaly	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000252	HP:0000252	Microcephaly	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0000252	Microcephaly	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000252	HP:0000252	Microcephaly	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000252	HP:0000252	Microcephaly	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000252	HP:0000252	Microcephaly	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000252	HP:0000252	Microcephaly	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0000252	HP:0000252	Microcephaly	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000252	HP:0000252	Microcephaly	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000252	HP:0000252	Microcephaly	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000252	HP:0000252	Microcephaly	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000252	HP:0000252	Microcephaly	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0000252	HP:0000252	Microcephaly	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000252	HP:0000252	Microcephaly	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000252	HP:0000252	Microcephaly	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0000252	HP:0000252	Microcephaly	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000252	HP:0000252	Microcephaly	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	HP:0040283 - Occasional		20
HP:0000252	HP:0000252	Microcephaly	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0000252	HP:0000252	Microcephaly	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0000252	HP:0000252	Microcephaly	0	PHC1 CL E G H	1911	3182	OMIM:615414	Microcephaly 11, primary, autosomal recessive	.		16
HP:0000252	HP:0000252	Microcephaly	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040283 - Occasional		29
HP:0000252	HP:0000252	Microcephaly	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000252	HP:0000252	Microcephaly	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome			23
HP:0000252	HP:0000252	Microcephaly	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0000252	HP:0000252	Microcephaly	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0000252	HP:0000252	Microcephaly	0	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency			37
HP:0000252	HP:0000252	Microcephaly	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0000252	HP:0000252	Microcephaly	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000252	HP:0000252	Microcephaly	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0000252	HP:0000252	Microcephaly	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0000252	HP:0000252	Microcephaly	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0000252	HP:0000252	Microcephaly	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000252	HP:0000252	Microcephaly	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000252	HP:0000252	Microcephaly	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000252	HP:0000252	Microcephaly	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0000252	HP:0000252	Microcephaly	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000252	HP:0000252	Microcephaly	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0000252	HP:0000252	Microcephaly	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000252	HP:0000252	Microcephaly	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0000252	HP:0000252	Microcephaly	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000252	HP:0000252	Microcephaly	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000252	HP:0000252	Microcephaly	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia			3
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040281 - Very frequent		11
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0000252	HP:0000252	Microcephaly	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		11
HP:0000252	HP:0000252	Microcephaly	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.		60
HP:0000252	HP:0000252	Microcephaly	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000252	HP:0000252	Microcephaly	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0000252	HP:0000252	Microcephaly	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000252	HP:0000252	Microcephaly	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000252	HP:0000252	Microcephaly	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0000252	HP:0000252	Microcephaly	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0000252	HP:0000252	Microcephaly	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional		92
HP:0000252	HP:0000252	Microcephaly	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000252	HP:0000252	Microcephaly	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	HP:0003581 - Adult onset	10
HP:0000252	HP:0000252	Microcephaly	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0000252	HP:0000252	Microcephaly	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000252	HP:0000252	Microcephaly	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0000252	HP:0000252	Microcephaly	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0000252	HP:0000252	Microcephaly	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0000252	HP:0000252	Microcephaly	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000252	HP:0000252	Microcephaly	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000252	HP:0000252	Microcephaly	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000252	HP:0000252	Microcephaly	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0000252	HP:0000252	Microcephaly	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000252	HP:0000252	Microcephaly	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000252	HP:0000252	Microcephaly	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		180
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.		180
HP:0000252	HP:0000252	Microcephaly	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		180
HP:0000252	HP:0000252	Microcephaly	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		33
HP:0000252	HP:0000252	Microcephaly	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		18
HP:0000252	HP:0000252	Microcephaly	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000252	HP:0000252	Microcephaly	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		18
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0000252	HP:0000252	Microcephaly	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		213
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		221
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.		221
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0000252	HP:0000252	Microcephaly	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional		221
HP:0000252	HP:0000252	Microcephaly	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0000252	HP:0000252	Microcephaly	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000252	HP:0000252	Microcephaly	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000252	HP:0000252	Microcephaly	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000252	HP:0000252	Microcephaly	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0000252	HP:0000252	Microcephaly	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040281 - Very frequent		28
HP:0000252	HP:0000252	Microcephaly	0	PQBP1 CL E G H	10084	9330	ORPHA:93950	X-linked intellectual disability, Sutherland-Haan type	HP:0040281 - Very frequent		28
HP:0000252	HP:0000252	Microcephaly	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000252	HP:0000252	Microcephaly	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000252	HP:0000252	Microcephaly	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000252	HP:0000252	Microcephaly	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000252	HP:0000252	Microcephaly	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0000252	HP:0000252	Microcephaly	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	.		42
HP:0000252	HP:0000252	Microcephaly	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0000252	HP:0000252	Microcephaly	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000252	HP:0000252	Microcephaly	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000252	HP:0000252	Microcephaly	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0000252	HP:0000252	Microcephaly	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000252	HP:0000252	Microcephaly	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0000252	HP:0000252	Microcephaly	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0000252	HP:0000252	Microcephaly	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0000252	HP:0000252	Microcephaly	0	PSMB1 CL E G H	5689	9537	OMIM:620038				2
HP:0000252	HP:0000252	Microcephaly	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0000252	HP:0000252	Microcephaly	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	PSPH CL E G H	5723	9577	OMIM:614023	Phosphoserine phosphatase deficiency	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000252	HP:0000252	Microcephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		665
HP:0000252	HP:0000252	Microcephaly	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		948
HP:0000252	HP:0000252	Microcephaly	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0000252	HP:0000252	Microcephaly	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0000252	HP:0000252	Microcephaly	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000252	HP:0000252	Microcephaly	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000252	HP:0000252	Microcephaly	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0000252	HP:0000252	Microcephaly	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000252	HP:0000252	Microcephaly	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000252	HP:0000252	Microcephaly	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0000252	HP:0000252	Microcephaly	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0000252	HP:0000252	Microcephaly	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		57
HP:0000252	HP:0000252	Microcephaly	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0000252	HP:0000252	Microcephaly	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55			1
HP:0000252	HP:0000252	Microcephaly	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000252	HP:0000252	Microcephaly	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0000252	HP:0000252	Microcephaly	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0000252	HP:0000252	Microcephaly	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000252	HP:0000252	Microcephaly	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000252	HP:0000252	Microcephaly	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000252	HP:0000252	Microcephaly	0	QDPR CL E G H	5860	9752	ORPHA:226	Dihydropteridine reductase deficiency	HP:0040281 - Very frequent		43
HP:0000252	HP:0000252	Microcephaly	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0000252	HP:0000252	Microcephaly	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000252	HP:0000252	Microcephaly	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000252	HP:0000252	Microcephaly	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0000252	HP:0000252	Microcephaly	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0000252	HP:0000252	Microcephaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0000252	HP:0000252	Microcephaly	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0000252	HP:0000252	Microcephaly	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0000252	HP:0000252	Microcephaly	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0000252	HP:0000252	Microcephaly	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0000252	HP:0000252	Microcephaly	0	RAD50 CL E G H	10111	9816	OMIM:613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD			789
HP:0000252	HP:0000252	Microcephaly	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0000252	HP:0000252	Microcephaly	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.		9
HP:0000252	HP:0000252	Microcephaly	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0000252	HP:0000252	Microcephaly	0	RAI1 CL E G H	10743	9834	ORPHA:1713	17p11.2 microduplication syndrome	HP:0040283 - Occasional		150
HP:0000252	HP:0000252	Microcephaly	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		150
HP:0000252	HP:0000252	Microcephaly	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0000252	HP:0000252	Microcephaly	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0000252	HP:0000252	Microcephaly	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040281 - Very frequent		365
HP:0000252	HP:0000252	Microcephaly	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0000252	HP:0000252	Microcephaly	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		68
HP:0000252	HP:0000252	Microcephaly	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2			68
HP:0000252	HP:0000252	Microcephaly	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.		1
HP:0000252	HP:0000252	Microcephaly	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.		3
HP:0000252	HP:0000252	Microcephaly	0	RELN CL E G H	5649	9957	OMIM:257320	Lissencephaly 2			334
HP:0000252	HP:0000252	Microcephaly	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000252	HP:0000252	Microcephaly	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.		25
HP:0000252	HP:0000252	Microcephaly	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000252	HP:0000252	Microcephaly	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000252	HP:0000252	Microcephaly	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0000252	HP:0000252	Microcephaly	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0000252	HP:0000252	Microcephaly	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0000252	HP:0000252	Microcephaly	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0000252	HP:0000252	Microcephaly	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0000252	HP:0000252	Microcephaly	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0000252	HP:0000252	Microcephaly	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional		37
HP:0000252	HP:0000252	Microcephaly	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0000252	HP:0000252	Microcephaly	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000252	HP:0000252	Microcephaly	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	RNF168 CL E G H	165918	26661	OMIM:611943	Riddle syndrome	HP:0040283 - Occasional		7
HP:0000252	HP:0000252	Microcephaly	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000252	HP:0000252	Microcephaly	0	RNPC3 CL E G H	55599	18666	OMIM:618160	Isolated growth hormone deficiency, type V	.
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040281 - Very frequent		15
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000252	HP:0000252	Microcephaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0000252	HP:0000252	Microcephaly	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000252	HP:0000252	Microcephaly	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		109
HP:0000252	HP:0000252	Microcephaly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		167
HP:0000252	HP:0000252	Microcephaly	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000252	HP:0000252	Microcephaly	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040282 - Frequent		10
HP:0000252	HP:0000252	Microcephaly	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040280 - Obligate		10
HP:0000252	HP:0000252	Microcephaly	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000252	HP:0000252	Microcephaly	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0000252	HP:0000252	Microcephaly	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0000252	HP:0000252	Microcephaly	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0000252	HP:0000252	Microcephaly	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0000252	HP:0000252	Microcephaly	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0000252	HP:0000252	Microcephaly	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0000252	HP:0000252	Microcephaly	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD			2
HP:0000252	HP:0000252	Microcephaly	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0000252	HP:0000252	Microcephaly	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000252	HP:0000252	Microcephaly	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0000252	HP:0000252	Microcephaly	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.		65
HP:0000252	HP:0000252	Microcephaly	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0000252	HP:0000252	Microcephaly	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0000252	HP:0000252	Microcephaly	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	RRP7A CL E G H	27341	24286	OMIM:619453	MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE; MCPH28
HP:0000252	HP:0000252	Microcephaly	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000252	HP:0000252	Microcephaly	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70			2
HP:0000252	HP:0000252	Microcephaly	0	RTEL1 CL E G H	51750	15888	OMIM:615190	Dyskeratosis congenita, autosomal recessive 5	.		77
HP:0000252	HP:0000252	Microcephaly	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		77
HP:0000252	HP:0000252	Microcephaly	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040281 - Very frequent		113
HP:0000252	HP:0000252	Microcephaly	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures			113
HP:0000252	HP:0000252	Microcephaly	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0000252	HP:0000252	Microcephaly	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0000252	HP:0000252	Microcephaly	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000252	HP:0000252	Microcephaly	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0000252	HP:0000252	Microcephaly	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	HP:0040283 - Occasional		55
HP:0000252	HP:0000252	Microcephaly	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0000252	HP:0000252	Microcephaly	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0000252	HP:0000252	Microcephaly	0	SASS6 CL E G H	163786	25403	OMIM:616402	Microcephaly 14, primary, autosomal recessive	.		4
HP:0000252	HP:0000252	Microcephaly	0	SATB1 CL E G H	6304	10541	OMIM:619228	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA
HP:0000252	HP:0000252	Microcephaly	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000252	HP:0000252	Microcephaly	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0000252	HP:0000252	Microcephaly	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.		16
HP:0000252	HP:0000252	Microcephaly	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000252	HP:0000252	Microcephaly	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040281 - Very frequent		80
HP:0000252	HP:0000252	Microcephaly	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0000252	HP:0000252	Microcephaly	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0000252	HP:0000252	Microcephaly	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0000252	HP:0000252	Microcephaly	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0000252	HP:0000252	Microcephaly	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4	.		70
HP:0000252	HP:0000252	Microcephaly	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000252	HP:0000252	Microcephaly	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0000252	HP:0000252	Microcephaly	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	HP:0040283 - Occasional		357
HP:0000252	HP:0000252	Microcephaly	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0000252	HP:0000252	Microcephaly	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2			1
HP:0000252	HP:0000252	Microcephaly	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000252	HP:0000252	Microcephaly	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0000252	HP:0000252	Microcephaly	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000252	HP:0000252	Microcephaly	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0000252	HP:0000252	Microcephaly	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000252	HP:0000252	Microcephaly	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0000252	HP:0000252	Microcephaly	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0000252	HP:0000252	Microcephaly	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0000252	HP:0000252	Microcephaly	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0000252	HP:0000252	Microcephaly	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	HP:0040283 - Occasional		47
HP:0000252	HP:0000252	Microcephaly	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.		1
HP:0000252	HP:0000252	Microcephaly	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000252	HP:0000252	Microcephaly	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000252	HP:0000252	Microcephaly	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		67
HP:0000252	HP:0000252	Microcephaly	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0000252	HP:0000252	Microcephaly	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000252	HP:0000252	Microcephaly	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0000252	HP:0000252	Microcephaly	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		67
HP:0000252	HP:0000252	Microcephaly	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0000252	HP:0000252	Microcephaly	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0000252	HP:0000252	Microcephaly	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000252	HP:0000252	Microcephaly	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0000252	HP:0000252	Microcephaly	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0000252	HP:0000252	Microcephaly	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0000252	HP:0000252	Microcephaly	0	SLC12A6 CL E G H	9990	10914	ORPHA:1496	Corpus callosum agenesis-neuronopathy syndrome	HP:0040281 - Very frequent		163
HP:0000252	HP:0000252	Microcephaly	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.		73
HP:0000252	HP:0000252	Microcephaly	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0000252	HP:0000252	Microcephaly	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0000252	HP:0000252	Microcephaly	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0000252	HP:0000252	Microcephaly	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0000252	HP:0000252	Microcephaly	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0000252	HP:0000252	Microcephaly	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0000252	HP:0000252	Microcephaly	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0000252	HP:0000252	Microcephaly	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		70
HP:0000252	HP:0000252	Microcephaly	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0000252	HP:0000252	Microcephaly	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000252	HP:0000252	Microcephaly	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0000252	HP:0000252	Microcephaly	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0000252	HP:0000252	Microcephaly	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0000252	HP:0000252	Microcephaly	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0000252	HP:0000252	Microcephaly	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3			166
HP:0000252	HP:0000252	Microcephaly	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000252	HP:0000252	Microcephaly	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0000252	HP:0000252	Microcephaly	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0000252	HP:0000252	Microcephaly	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional		42
HP:0000252	HP:0000252	Microcephaly	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0000252	HP:0000252	Microcephaly	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000252	HP:0000252	Microcephaly	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0000252	HP:0000252	Microcephaly	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0000252	HP:0000252	Microcephaly	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc	.		71
HP:0000252	HP:0000252	Microcephaly	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000252	HP:0000252	Microcephaly	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000252	HP:0000252	Microcephaly	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0000252	HP:0000252	Microcephaly	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0000252	HP:0000252	Microcephaly	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0000252	HP:0000252	Microcephaly	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0000252	HP:0000252	Microcephaly	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0000252	HP:0000252	Microcephaly	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional		122
HP:0000252	HP:0000252	Microcephaly	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0000252	HP:0000252	Microcephaly	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0000252	HP:0000252	Microcephaly	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0000252	HP:0000252	Microcephaly	0	SLX4 CL E G H	84464	23845	OMIM:613951	Fanconi anemia, complementation group P	HP:0040283 - Occasional		274
HP:0000252	HP:0000252	Microcephaly	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0000252	HP:0000252	Microcephaly	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000252	HP:0000252	Microcephaly	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0000252	HP:0000252	Microcephaly	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0000252	HP:0000252	Microcephaly	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		617
HP:0000252	HP:0000252	Microcephaly	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000252	HP:0000252	Microcephaly	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		87
HP:0000252	HP:0000252	Microcephaly	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000252	HP:0000252	Microcephaly	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		47
HP:0000252	HP:0000252	Microcephaly	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.		47
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000252	HP:0000252	Microcephaly	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000252	HP:0000252	Microcephaly	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0000252	HP:0000252	Microcephaly	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000252	HP:0000252	Microcephaly	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000252	HP:0000252	Microcephaly	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0000252	HP:0000252	Microcephaly	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0000252	HP:0000252	Microcephaly	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000252	HP:0000252	Microcephaly	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0000252	HP:0000252	Microcephaly	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent		94
HP:0000252	HP:0000252	Microcephaly	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000252	HP:0000252	Microcephaly	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0000252	HP:0000252	Microcephaly	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000252	HP:0000252	Microcephaly	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0000252	HP:0000252	Microcephaly	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000252	HP:0000252	Microcephaly	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		14
HP:0000252	HP:0000252	Microcephaly	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0000252	HP:0000252	Microcephaly	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0000252	HP:0000252	Microcephaly	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000252	HP:0000252	Microcephaly	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040284 - Very rare		49
HP:0000252	HP:0000252	Microcephaly	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.		49
HP:0000252	HP:0000252	Microcephaly	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0000252	HP:0000252	Microcephaly	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0000252	HP:0000252	Microcephaly	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040281 - Very frequent		19
HP:0000252	HP:0000252	Microcephaly	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000252	HP:0000252	Microcephaly	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0000252	Microcephaly	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000252	HP:0000252	Microcephaly	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0000252	HP:0000252	Microcephaly	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000252	HP:0000252	Microcephaly	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040283 - Occasional		28
HP:0000252	HP:0000252	Microcephaly	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.		28
HP:0000252	HP:0000252	Microcephaly	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0000252	HP:0000252	Microcephaly	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000252	HP:0000252	Microcephaly	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0000252	HP:0000252	Microcephaly	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000252	HP:0000252	Microcephaly	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0000252	HP:0000252	Microcephaly	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0000252	HP:0000252	Microcephaly	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040280 - Obligate		12
HP:0000252	HP:0000252	Microcephaly	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	HP:0040283 - Occasional		47
HP:0000252	HP:0000252	Microcephaly	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0000252	HP:0000252	Microcephaly	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	HP:0040284 - Very rare		9
HP:0000252	HP:0000252	Microcephaly	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000252	HP:0000252	Microcephaly	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000252	HP:0000252	Microcephaly	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000252	HP:0000252	Microcephaly	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2			12
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive	.		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000252	HP:0000252	Microcephaly	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		99
HP:0000252	HP:0000252	Microcephaly	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0000252	HP:0000252	Microcephaly	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000252	HP:0000252	Microcephaly	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0000252	HP:0000252	Microcephaly	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0000252	HP:0000252	Microcephaly	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0000252	HP:0000252	Microcephaly	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040282 - Frequent		237
HP:0000252	HP:0000252	Microcephaly	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000252	HP:0000252	Microcephaly	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0000252	HP:0000252	Microcephaly	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0000252	HP:0000252	Microcephaly	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040283 - Occasional		80
HP:0000252	HP:0000252	Microcephaly	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000252	HP:0000252	Microcephaly	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000252	HP:0000252	Microcephaly	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	HP:0040283 - Occasional		108
HP:0000252	HP:0000252	Microcephaly	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0000252	HP:0000252	Microcephaly	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000252	HP:0000252	Microcephaly	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0000252	HP:0000252	Microcephaly	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0000252	HP:0000252	Microcephaly	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0000252	HP:0000252	Microcephaly	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000252	HP:0000252	Microcephaly	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0000252	HP:0000252	Microcephaly	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	TAF13 CL E G H	6884	11546	OMIM:617432	Mental retardation, autosomal recessive 60	.		2
HP:0000252	HP:0000252	Microcephaly	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0000252	HP:0000252	Microcephaly	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0000252	HP:0000252	Microcephaly	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0000252	HP:0000252	Microcephaly	0	TANC2 CL E G H	26115	30212	OMIM:618906	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000252	HP:0000252	Microcephaly	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional		12
HP:0000252	HP:0000252	Microcephaly	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040284 - Very rare		12
HP:0000252	HP:0000252	Microcephaly	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000252	HP:0000252	Microcephaly	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000252	HP:0000252	Microcephaly	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0000252	HP:0000252	Microcephaly	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0000252	HP:0000252	Microcephaly	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000252	HP:0000252	Microcephaly	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	HP:0040283 - Occasional		271
HP:0000252	HP:0000252	Microcephaly	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent		271
HP:0000252	HP:0000252	Microcephaly	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0000252	HP:0000252	Microcephaly	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0000252	HP:0000252	Microcephaly	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0000252	HP:0000252	Microcephaly	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000252	HP:0000252	Microcephaly	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000252	HP:0000252	Microcephaly	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000252	HP:0000252	Microcephaly	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000252	HP:0000252	Microcephaly	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0000252	HP:0000252	Microcephaly	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent		55
HP:0000252	HP:0000252	Microcephaly	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional		19
HP:0000252	HP:0000252	Microcephaly	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000252	HP:0000252	Microcephaly	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000252	HP:0000252	Microcephaly	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0000252	HP:0000252	Microcephaly	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		76
HP:0000252	HP:0000252	Microcephaly	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.		76
HP:0000252	HP:0000252	Microcephaly	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		31
HP:0000252	HP:0000252	Microcephaly	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	TDP2 CL E G H	51567	17768	OMIM:616949	Spinocerebellar ataxia, autosomal recessive 23	.		3
HP:0000252	HP:0000252	Microcephaly	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0000252	HP:0000252	Microcephaly	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0000252	HP:0000252	Microcephaly	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000252	HP:0000252	Microcephaly	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	.		12
HP:0000252	HP:0000252	Microcephaly	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0000252	HP:0000252	Microcephaly	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		238
HP:0000252	HP:0000252	Microcephaly	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000252	HP:0000252	Microcephaly	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000252	HP:0000252	Microcephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0000252	HP:0000252	Microcephaly	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000252	HP:0000252	Microcephaly	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0000252	HP:0000252	Microcephaly	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000252	HP:0000252	Microcephaly	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000252	HP:0000252	Microcephaly	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0000252	HP:0000252	Microcephaly	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040281 - Very frequent		60
HP:0000252	HP:0000252	Microcephaly	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0000252	HP:0000252	Microcephaly	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0000252	HP:0000252	Microcephaly	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		4
HP:0000252	HP:0000252	Microcephaly	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0000252	HP:0000252	Microcephaly	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0000252	HP:0000252	Microcephaly	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0000252	HP:0000252	Microcephaly	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000252	HP:0000252	Microcephaly	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		33
HP:0000252	HP:0000252	Microcephaly	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		82
HP:0000252	HP:0000252	Microcephaly	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0000252	HP:0000252	Microcephaly	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		166
HP:0000252	HP:0000252	Microcephaly	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0000252	HP:0000252	Microcephaly	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0000252	HP:0000252	Microcephaly	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000252	HP:0000252	Microcephaly	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000252	HP:0000252	Microcephaly	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0000252	HP:0000252	Microcephaly	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000252	HP:0000252	Microcephaly	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	.
HP:0000252	HP:0000252	Microcephaly	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000252	HP:0000252	Microcephaly	0	TP53 CL E G H	7157	11998	OMIM:618165	Bone marrow failure syndrome 5	.		911
HP:0000252	HP:0000252	Microcephaly	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000252	HP:0000252	Microcephaly	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0000252	HP:0000252	Microcephaly	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000252	HP:0000252	Microcephaly	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0000252	HP:0000252	Microcephaly	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC10 CL E G H	7109	11868	OMIM:620027				1
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional		27
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive	.
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000252	HP:0000252	Microcephaly	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0000252	HP:0000252	Microcephaly	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0000252	HP:0000252	Microcephaly	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000252	HP:0000252	Microcephaly	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000252	HP:0000252	Microcephaly	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.		8
HP:0000252	HP:0000252	Microcephaly	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000252	HP:0000252	Microcephaly	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000252	HP:0000252	Microcephaly	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	HP:0040284 - Very rare		2
HP:0000252	HP:0000252	Microcephaly	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0000252	HP:0000252	Microcephaly	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68	.		1
HP:0000252	HP:0000252	Microcephaly	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	.		7
HP:0000252	HP:0000252	Microcephaly	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0000252	HP:0000252	Microcephaly	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional		171
HP:0000252	HP:0000252	Microcephaly	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000252	HP:0000252	Microcephaly	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0000252	HP:0000252	Microcephaly	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0000252	HP:0000252	Microcephaly	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0000252	HP:0000252	Microcephaly	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0000252	HP:0000252	Microcephaly	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0000252	HP:0000252	Microcephaly	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C			57
HP:0000252	HP:0000252	Microcephaly	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0000252	HP:0000252	Microcephaly	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0000252	HP:0000252	Microcephaly	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0000252	HP:0000252	Microcephaly	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0000252	HP:0000252	Microcephaly	0	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.		102
HP:0000252	HP:0000252	Microcephaly	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000252	HP:0000252	Microcephaly	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000252	HP:0000252	Microcephaly	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.		11
HP:0000252	HP:0000252	Microcephaly	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0000252	HP:0000252	Microcephaly	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.		106
HP:0000252	HP:0000252	Microcephaly	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000252	HP:0000252	Microcephaly	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria			106
HP:0000252	HP:0000252	Microcephaly	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6	.		14
HP:0000252	HP:0000252	Microcephaly	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	.		14
HP:0000252	HP:0000252	Microcephaly	0	TUBB2B CL E G H	347733	30829	OMIM:610031	Cortical dysplasia, complex, with other brain malformations 7	.		39
HP:0000252	HP:0000252	Microcephaly	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040282 - Frequent		39
HP:0000252	HP:0000252	Microcephaly	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria			39
HP:0000252	HP:0000252	Microcephaly	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000252	HP:0000252	Microcephaly	0	TUBB3 CL E G H	10381	20772	OMIM:614039	Cortical dysplasia, complex, with other brain malformations 1	.		64
HP:0000252	HP:0000252	Microcephaly	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria			64
HP:0000252	HP:0000252	Microcephaly	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0000252	HP:0000252	Microcephaly	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	TUBG1 CL E G H	7283	12417	OMIM:615412	Cortical dysplasia, complex, with other brain malformations 4	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000252	HP:0000252	Microcephaly	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040281 - Very frequent		14
HP:0000252	HP:0000252	Microcephaly	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000252	HP:0000252	Microcephaly	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040281 - Very frequent		61
HP:0000252	HP:0000252	Microcephaly	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0000252	HP:0000252	Microcephaly	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0000252	HP:0000252	Microcephaly	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0000252	HP:0000252	Microcephaly	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0000252	HP:0000252	Microcephaly	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0000252	Microcephaly	0	TYMS CL E G H	7298	12441	OMIM:620040				1
HP:0000252	HP:0000252	Microcephaly	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44			13
HP:0000252	HP:0000252	Microcephaly	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0000252	HP:0000252	Microcephaly	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0000252	HP:0000252	Microcephaly	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000252	HP:0000252	Microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0000252	HP:0000252	Microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0000252	HP:0000252	Microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0000252	HP:0000252	Microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0000252	HP:0000252	Microcephaly	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000252	HP:0000252	Microcephaly	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0000252	HP:0000252	Microcephaly	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0000252	HP:0000252	Microcephaly	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0000252	HP:0000252	Microcephaly	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0000252	HP:0000252	Microcephaly	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0000252	HP:0000252	Microcephaly	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0000252	HP:0000252	Microcephaly	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000252	HP:0000252	Microcephaly	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000252	HP:0000252	Microcephaly	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000252	HP:0000252	Microcephaly	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000252	HP:0000252	Microcephaly	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency			44
HP:0000252	HP:0000252	Microcephaly	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0000252	HP:0000252	Microcephaly	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0000252	HP:0000252	Microcephaly	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0000252	HP:0000252	Microcephaly	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000252	HP:0000252	Microcephaly	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000252	HP:0000252	Microcephaly	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20	.		56
HP:0000252	HP:0000252	Microcephaly	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0000252	HP:0000252	Microcephaly	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000252	HP:0000252	Microcephaly	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		1
HP:0000252	HP:0000252	Microcephaly	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0000252	HP:0000252	Microcephaly	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000252	HP:0000252	Microcephaly	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0000252	HP:0000252	Microcephaly	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare		7
HP:0000252	HP:0000252	Microcephaly	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000252	HP:0000252	Microcephaly	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000252	HP:0000252	Microcephaly	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000252	HP:0000252	Microcephaly	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000252	HP:0000252	Microcephaly	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000252	HP:0000252	Microcephaly	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000252	HP:0000252	Microcephaly	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0000252	HP:0000252	Microcephaly	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000252	HP:0000252	Microcephaly	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000252	HP:0000252	Microcephaly	0	WDFY3 CL E G H	23001	20751	OMIM:617520	Microcephaly 18, primary, autosomal dominant	.		6
HP:0000252	HP:0000252	Microcephaly	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000252	HP:0000252	Microcephaly	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000252	HP:0000252	Microcephaly	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000252	HP:0000252	Microcephaly	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000252	HP:0000252	Microcephaly	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000252	HP:0000252	Microcephaly	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	HP:0040284 - Very rare		1
HP:0000252	HP:0000252	Microcephaly	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0000252	HP:0000252	Microcephaly	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0000252	HP:0000252	Microcephaly	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		14
HP:0000252	HP:0000252	Microcephaly	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0000252	HP:0000252	Microcephaly	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000252	HP:0000252	Microcephaly	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000252	HP:0000252	Microcephaly	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000252	HP:0000252	Microcephaly	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional		149
HP:0000252	HP:0000252	Microcephaly	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0000252	HP:0000252	Microcephaly	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0000252	HP:0000252	Microcephaly	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0000252	HP:0000252	Microcephaly	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0000252	HP:0000252	Microcephaly	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		4
HP:0000252	HP:0000252	Microcephaly	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0000252	HP:0000252	Microcephaly	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.		125
HP:0000252	HP:0000252	Microcephaly	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040281 - Very frequent		9
HP:0000252	HP:0000252	Microcephaly	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0000252	HP:0000252	Microcephaly	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0000252	HP:0000252	Microcephaly	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0000252	HP:0000252	Microcephaly	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000252	HP:0000252	Microcephaly	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040282 - Frequent		45
HP:0000252	HP:0000252	Microcephaly	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000252	HP:0000252	Microcephaly	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0000252	HP:0000252	Microcephaly	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000252	HP:0000252	Microcephaly	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000252	HP:0000252	Microcephaly	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0000252	HP:0000252	Microcephaly	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	HP:0040284 - Very rare
HP:0000252	HP:0000252	Microcephaly	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0000252	HP:0000252	Microcephaly	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0000252	HP:0000252	Microcephaly	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000252	HP:0000252	Microcephaly	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000252	HP:0000252	Microcephaly	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0000252	HP:0000252	Microcephaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000252	HP:0000252	Microcephaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000252	HP:0000252	Microcephaly	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional		5
HP:0000252	HP:0000252	Microcephaly	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS			5
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000252	HP:0000252	Microcephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		34
HP:0000252	HP:0000252	Microcephaly	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000252	HP:0000252	Microcephaly	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0000252	HP:0000252	Microcephaly	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000252	HP:0000252	Microcephaly	0	ZNF335 CL E G H	63925	15807	ORPHA:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	HP:0040281 - Very frequent		60
HP:0000252	HP:0000252	Microcephaly	0	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive	.		60
HP:0000252	HP:0000252	Microcephaly	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000252	HP:0000252	Microcephaly	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000252	HP:0000252	Microcephaly	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040281 - Very frequent		4
HP:0000252	HP:0000252	Microcephaly	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000252	HP:0000252	Microcephaly	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000252	HP:0000252	Microcephaly	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000252	Microcephaly	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000252	HP:0000252	Microcephaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000252	HP:0000252	Microcephaly	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040284 - Very rare
HP:0000252	HP:0005484	Secondary microcephaly	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000252	HP:0005484	Secondary microcephaly	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000252	HP:0005484	Secondary microcephaly	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000252	HP:0005484	Secondary microcephaly	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0000252	HP:0011451	Primary microcephaly	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000252	HP:0005484	Secondary microcephaly	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000252	HP:0005484	Secondary microcephaly	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0000252	HP:0005484	Secondary microcephaly	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000252	HP:0005484	Secondary microcephaly	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000252	HP:0005484	Secondary microcephaly	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000252	HP:0005484	Secondary microcephaly	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000252	HP:0005484	Secondary microcephaly	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive			179
HP:0000252	HP:0011451	Primary microcephaly	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000252	HP:0005484	Secondary microcephaly	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000252	HP:0005484	Secondary microcephaly	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000252	HP:0005484	Secondary microcephaly	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000252	HP:0005484	Secondary microcephaly	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000252	HP:0005484	Secondary microcephaly	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000252	HP:0005484	Secondary microcephaly	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000252	HP:0005484	Secondary microcephaly	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0000252	HP:0005484	Secondary microcephaly	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000252	HP:0005484	Secondary microcephaly	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0000252	HP:0005484	Secondary microcephaly	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0000252	HP:0005484	Secondary microcephaly	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000252	HP:0005484	Secondary microcephaly	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0000252	HP:0011451	Primary microcephaly	1	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive			181
HP:0000252	HP:0005484	Secondary microcephaly	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0000252	HP:0005484	Secondary microcephaly	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000252	HP:0011451	Primary microcephaly	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0000252	HP:0011451	Primary microcephaly	1	CEP63 CL E G H	80254	25815	OMIM:614728	Seckel syndrome 6			31
HP:0000252	HP:0005484	Secondary microcephaly	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000252	HP:0005484	Secondary microcephaly	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0000252	HP:0005484	Secondary microcephaly	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000252	HP:0011451	Primary microcephaly	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040281 - Very frequent		38
HP:0000252	HP:0005484	Secondary microcephaly	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0000252	HP:0005484	Secondary microcephaly	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0000252	HP:0005484	Secondary microcephaly	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000252	HP:0005484	Secondary microcephaly	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000252	HP:0005484	Secondary microcephaly	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000252	HP:0005484	Secondary microcephaly	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent		2
HP:0000252	HP:0005484	Secondary microcephaly	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.		2
HP:0000252	HP:0005484	Secondary microcephaly	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040283 - Occasional		71
HP:0000252	HP:0011451	Primary microcephaly	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000252	HP:0005484	Secondary microcephaly	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000252	HP:0005484	Secondary microcephaly	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000252	HP:0005484	Secondary microcephaly	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0000252	HP:0005484	Secondary microcephaly	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0000252	HP:0005484	Secondary microcephaly	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0000252	HP:0005484	Secondary microcephaly	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent		291
HP:0000252	HP:0005484	Secondary microcephaly	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0000252	HP:0011451	Primary microcephaly	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000252	HP:0011451	Primary microcephaly	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040282 - Frequent		88
HP:0000252	HP:0005484	Secondary microcephaly	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0000252	HP:0005484	Secondary microcephaly	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0000252	HP:0005484	Secondary microcephaly	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0000252	HP:0011451	Primary microcephaly	1	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		2
HP:0000252	HP:0005484	Secondary microcephaly	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0000252	HP:0005484	Secondary microcephaly	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000252	HP:0005484	Secondary microcephaly	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000252	HP:0005484	Secondary microcephaly	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040281 - Very frequent		27
HP:0000252	HP:0005484	Secondary microcephaly	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0000252	HP:0005484	Secondary microcephaly	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000252	HP:0011451	Primary microcephaly	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000252	HP:0005484	Secondary microcephaly	1	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.		60
HP:0000252	HP:0005484	Secondary microcephaly	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000252	HP:0005484	Secondary microcephaly	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0000252	HP:0005484	Secondary microcephaly	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000252	HP:0005484	Secondary microcephaly	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000252	HP:0005484	Secondary microcephaly	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000252	HP:0005484	Secondary microcephaly	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000252	HP:0005484	Secondary microcephaly	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000252	HP:0011451	Primary microcephaly	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000252	HP:0005484	Secondary microcephaly	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000252	HP:0005484	Secondary microcephaly	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000252	HP:0011451	Primary microcephaly	1	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent		7
HP:0000252	HP:0005484	Secondary microcephaly	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent		250
HP:0000252	HP:0005484	Secondary microcephaly	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000252	HP:0005484	Secondary microcephaly	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000252	HP:0005484	Secondary microcephaly	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000252	HP:0005484	Secondary microcephaly	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000252	HP:0005484	Secondary microcephaly	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0000252	HP:0005484	Secondary microcephaly	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000252	HP:0005484	Secondary microcephaly	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000252	HP:0005484	Secondary microcephaly	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0000252	HP:0005484	Secondary microcephaly	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000252	HP:0005484	Secondary microcephaly	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional		3
HP:0000252	HP:0011451	Primary microcephaly	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0000252	HP:0005484	Secondary microcephaly	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000252	HP:0005484	Secondary microcephaly	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0000252	HP:0011451	Primary microcephaly	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia			1
HP:0000252	HP:0011451	Primary microcephaly	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0005484	Secondary microcephaly	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0000252	HP:0005484	Secondary microcephaly	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0005484	Secondary microcephaly	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000252	HP:0005484	Secondary microcephaly	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0000252	HP:0005484	Secondary microcephaly	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0000252	HP:0005484	Secondary microcephaly	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000252	HP:0005484	Secondary microcephaly	1	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000252	HP:0005484	Secondary microcephaly	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000252	HP:0005484	Secondary microcephaly	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0000252	HP:0005484	Secondary microcephaly	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0000252	HP:0011451	Primary microcephaly	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0000252	HP:0005484	Secondary microcephaly	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0000252	HP:0011451	Primary microcephaly	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0000252	HP:0005484	Secondary microcephaly	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000252	HP:0005484	Secondary microcephaly	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0000252	HP:0005484	Secondary microcephaly	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0000252	HP:0005484	Secondary microcephaly	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0000252	HP:0011451	Primary microcephaly	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0000252	HP:0005484	Secondary microcephaly	1	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	HP:0040283 - Occasional		119
HP:0000252	HP:0005484	Secondary microcephaly	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome			119
HP:0000252	HP:0005484	Secondary microcephaly	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.		4
HP:0000252	HP:0011451	Primary microcephaly	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000252	HP:0011451	Primary microcephaly	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		10
HP:0000252	HP:0005484	Secondary microcephaly	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0000252	HP:0005484	Secondary microcephaly	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000252	HP:0005484	Secondary microcephaly	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000252	HP:0011451	Primary microcephaly	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0000252	HP:0005484	Secondary microcephaly	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000252	HP:0005484	Secondary microcephaly	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000252	HP:0005484	Secondary microcephaly	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0000252	HP:0005484	Secondary microcephaly	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0000252	HP:0011451	Primary microcephaly	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040284 - Very rare		950
HP:0000252	HP:0005484	Secondary microcephaly	1	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.		950
HP:0000252	HP:0005484	Secondary microcephaly	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0000252	HP:0005484	Secondary microcephaly	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0000252	HP:0005484	Secondary microcephaly	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000252	HP:0005484	Secondary microcephaly	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000252	HP:0005484	Secondary microcephaly	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0000252	HP:0005484	Secondary microcephaly	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0000252	HP:0005484	Secondary microcephaly	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000252	HP:0005484	Secondary microcephaly	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000252	HP:0005484	Secondary microcephaly	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0000252	HP:0005484	Secondary microcephaly	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000252	HP:0011451	Primary microcephaly	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional		96
HP:0000252	HP:0011451	Primary microcephaly	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0000252	HP:0011451	Primary microcephaly	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		96
HP:0000252	HP:0005484	Secondary microcephaly	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.		32
HP:0000252	HP:0005484	Secondary microcephaly	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0000252	HP:0005484	Secondary microcephaly	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000252	HP:0005484	Secondary microcephaly	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0000252	HP:0011451	Primary microcephaly	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0000252	HP:0005484	Secondary microcephaly	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0005484	Secondary microcephaly	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000252	HP:0011451	Primary microcephaly	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000252	HP:0005484	Secondary microcephaly	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		121
HP:0000252	HP:0005484	Secondary microcephaly	1	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.		231
HP:0000252	HP:0005484	Secondary microcephaly	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0000252	HP:0005484	Secondary microcephaly	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000252	HP:0005484	Secondary microcephaly	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000252	HP:0005484	Secondary microcephaly	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000252	HP:0011451	Primary microcephaly	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000252	HP:0011451	Primary microcephaly	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0000252	HP:0011451	Primary microcephaly	1	PHGDH CL E G H	26227	8923	OMIM:601815	Phosphoglycerate dehydrogenase deficiency	.		37
HP:0000252	HP:0005484	Secondary microcephaly	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000252	HP:0011451	Primary microcephaly	1	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17			1
HP:0000252	HP:0005484	Secondary microcephaly	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000252	HP:0005484	Secondary microcephaly	1	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.		3
HP:0000252	HP:0005484	Secondary microcephaly	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0000252	HP:0005484	Secondary microcephaly	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000252	HP:0005484	Secondary microcephaly	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0000252	HP:0005484	Secondary microcephaly	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0000252	HP:0005484	Secondary microcephaly	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000252	HP:0011451	Primary microcephaly	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0000252	HP:0005484	Secondary microcephaly	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000252	HP:0011451	Primary microcephaly	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		2
HP:0000252	HP:0005484	Secondary microcephaly	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000252	HP:0005484	Secondary microcephaly	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000252	HP:0005484	Secondary microcephaly	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.		27
HP:0000252	HP:0011451	Primary microcephaly	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent		27
HP:0000252	HP:0005484	Secondary microcephaly	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0000252	HP:0005484	Secondary microcephaly	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000252	HP:0005484	Secondary microcephaly	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0000252	HP:0005484	Secondary microcephaly	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000252	HP:0005484	Secondary microcephaly	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000252	HP:0005484	Secondary microcephaly	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000252	HP:0005484	Secondary microcephaly	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0000252	HP:0005484	Secondary microcephaly	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0000252	HP:0005484	Secondary microcephaly	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0000252	HP:0005484	Secondary microcephaly	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0000252	HP:0011451	Primary microcephaly	1	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome			68
HP:0000252	HP:0011451	Primary microcephaly	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040281 - Very frequent		334
HP:0000252	HP:0005484	Secondary microcephaly	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000252	HP:0005484	Secondary microcephaly	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0000252	HP:0005484	Secondary microcephaly	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive			3
HP:0000252	HP:0011451	Primary microcephaly	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000252	HP:0005484	Secondary microcephaly	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000252	HP:0005484	Secondary microcephaly	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000252	HP:0005484	Secondary microcephaly	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0000252	HP:0005484	Secondary microcephaly	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0000252	HP:0005484	Secondary microcephaly	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000252	HP:0005484	Secondary microcephaly	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0000252	HP:0005484	Secondary microcephaly	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0000252	HP:0011451	Primary microcephaly	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0000252	HP:0011451	Primary microcephaly	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent		4
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000252	HP:0011451	Primary microcephaly	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3			166
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0000252	HP:0005484	Secondary microcephaly	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	HP:0040283 - Occasional		5
HP:0000252	HP:0005484	Secondary microcephaly	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0000252	HP:0011451	Primary microcephaly	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000252	HP:0005484	Secondary microcephaly	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000252	HP:0005484	Secondary microcephaly	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000252	HP:0005484	Secondary microcephaly	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000252	HP:0005484	Secondary microcephaly	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0000252	HP:0005484	Secondary microcephaly	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0000252	HP:0011451	Primary microcephaly	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional		19
HP:0000252	HP:0011451	Primary microcephaly	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000252	HP:0005484	Secondary microcephaly	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0000252	HP:0005484	Secondary microcephaly	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0000252	HP:0011451	Primary microcephaly	1	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive			99
HP:0000252	HP:0005484	Secondary microcephaly	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0000252	HP:0005484	Secondary microcephaly	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0000252	HP:0005484	Secondary microcephaly	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000252	HP:0005484	Secondary microcephaly	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0000252	HP:0005484	Secondary microcephaly	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0000252	HP:0011451	Primary microcephaly	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0000252	HP:0005484	Secondary microcephaly	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0000252	HP:0011451	Primary microcephaly	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000252	HP:0005484	Secondary microcephaly	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000252	HP:0011451	Primary microcephaly	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040281 - Very frequent		12
HP:0000252	HP:0005484	Secondary microcephaly	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0000252	HP:0005484	Secondary microcephaly	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000252	HP:0011451	Primary microcephaly	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000252	HP:0005484	Secondary microcephaly	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional		2
HP:0000252	HP:0011451	Primary microcephaly	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0000252	HP:0011451	Primary microcephaly	1	TRAPPC14 CL E G H	55262	25604	OMIM:618351	Microcephaly 25, primary, autosomal recessive
HP:0000252	HP:0005484	Secondary microcephaly	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0000252	HP:0005484	Secondary microcephaly	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0000252	HP:0005484	Secondary microcephaly	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0000252	HP:0005484	Secondary microcephaly	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0000252	HP:0005484	Secondary microcephaly	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000252	HP:0011451	Primary microcephaly	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0000252	HP:0011451	Primary microcephaly	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0000252	HP:0011451	Primary microcephaly	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040281 - Very frequent		7
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0000252	HP:0011451	Primary microcephaly	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0000252	HP:0005484	Secondary microcephaly	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0000252	HP:0011451	Primary microcephaly	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6			14
HP:0000252	HP:0011451	Primary microcephaly	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000252	HP:0005484	Secondary microcephaly	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000252	HP:0011451	Primary microcephaly	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0000252	HP:0005484	Secondary microcephaly	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0000252	HP:0005484	Secondary microcephaly	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0000252	HP:0005484	Secondary microcephaly	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0000252	HP:0005484	Secondary microcephaly	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0000252	HP:0005484	Secondary microcephaly	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		278
HP:0000252	HP:0005484	Secondary microcephaly	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0000252	HP:0011451	Primary microcephaly	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0000252	HP:0005484	Secondary microcephaly	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0000252	HP:0005484	Secondary microcephaly	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000252	HP:0011451	Primary microcephaly	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000252	HP:0005484	Secondary microcephaly	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000252	HP:0005484	Secondary microcephaly	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000252	HP:0005484	Secondary microcephaly	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000252	HP:0005484	Secondary microcephaly	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000252	HP:0005484	Secondary microcephaly	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0000252	HP:0005484	Secondary microcephaly	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0000252	HP:0011451	Primary microcephaly	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000252	HP:0005484	Secondary microcephaly	1	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0000252	HP:0011451	Primary microcephaly	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000252	HP:0005484	Secondary microcephaly	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0000252	HP:0005484	Secondary microcephaly	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0000252	HP:0011451	Primary microcephaly	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0000252	HP:0011451	Primary microcephaly	1	ZNF335 CL E G H	63925	15807	OMIM:615095	Microcephaly 10, primary, autosomal recessive			60
HP:0000252	HP:0005484	Secondary microcephaly	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000252	HP:0005484	Secondary microcephaly	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0000252	HP:0000253	Progressive microcephaly	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0000252	HP:0000253	Progressive microcephaly	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0000252	HP:0000253	Progressive microcephaly	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000252	HP:0000253	Progressive microcephaly	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent		58
HP:0000252	HP:0000253	Progressive microcephaly	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0000252	HP:0000253	Progressive microcephaly	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000252	HP:0000253	Progressive microcephaly	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent		93
HP:0000252	HP:0000253	Progressive microcephaly	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000252	HP:0000253	Progressive microcephaly	2	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.		179
HP:0000252	HP:0000253	Progressive microcephaly	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0000252	HP:0004485	Cessation of head growth	2	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		4
HP:0000252	HP:0000253	Progressive microcephaly	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000252	HP:0000253	Progressive microcephaly	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000252	HP:0000253	Progressive microcephaly	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000252	HP:0000253	Progressive microcephaly	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000252	HP:0000253	Progressive microcephaly	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000252	HP:0000253	Progressive microcephaly	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0000252	HP:0000253	Progressive microcephaly	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0000252	HP:0000253	Progressive microcephaly	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3			57
HP:0000252	HP:0000253	Progressive microcephaly	2	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0000252	HP:0000253	Progressive microcephaly	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000252	HP:0000253	Progressive microcephaly	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0000252	HP:0000253	Progressive microcephaly	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.		405
HP:0000252	HP:0000253	Progressive microcephaly	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000252	HP:0000253	Progressive microcephaly	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000252	HP:0000253	Progressive microcephaly	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0000252	HP:0000253	Progressive microcephaly	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000252	HP:0000253	Progressive microcephaly	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000252	HP:0000253	Progressive microcephaly	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000252	HP:0000253	Progressive microcephaly	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional		39
HP:0000252	HP:0000253	Progressive microcephaly	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000252	HP:0000253	Progressive microcephaly	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0000252	HP:0000253	Progressive microcephaly	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000252	HP:0004485	Cessation of head growth	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		42
HP:0000252	HP:0004485	Cessation of head growth	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		24
HP:0000252	HP:0004485	Cessation of head growth	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		32
HP:0000252	HP:0004485	Cessation of head growth	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		38
HP:0000252	HP:0004485	Cessation of head growth	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.		48
HP:0000252	HP:0000253	Progressive microcephaly	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000253	Progressive microcephaly	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000252	HP:0000253	Progressive microcephaly	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000252	HP:0000253	Progressive microcephaly	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000252	HP:0000253	Progressive microcephaly	2	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0000252	HP:0000253	Progressive microcephaly	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000252	HP:0000253	Progressive microcephaly	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000252	HP:0000253	Progressive microcephaly	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional		3
HP:0000252	HP:0000253	Progressive microcephaly	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent		7
HP:0000252	HP:0000253	Progressive microcephaly	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000252	HP:0000253	Progressive microcephaly	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0000252	HP:0000253	Progressive microcephaly	2	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000252	HP:0000253	Progressive microcephaly	2	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0000252	HP:0000253	Progressive microcephaly	2	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent		119
HP:0000252	HP:0000253	Progressive microcephaly	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000252	HP:0000253	Progressive microcephaly	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000252	HP:0000253	Progressive microcephaly	2	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000252	HP:0000253	Progressive microcephaly	2	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0000252	HP:0000253	Progressive microcephaly	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent		950
HP:0000252	HP:0000253	Progressive microcephaly	2	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0000252	HP:0000253	Progressive microcephaly	2	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0000252	HP:0000253	Progressive microcephaly	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040282 - Frequent		39
HP:0000252	HP:0000253	Progressive microcephaly	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0000252	HP:0000253	Progressive microcephaly	2	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000252	HP:0000253	Progressive microcephaly	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	HP:0040284 - Very rare		81
HP:0000252	HP:0004485	Cessation of head growth	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		121
HP:0000252	HP:0000253	Progressive microcephaly	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0000252	HP:0000253	Progressive microcephaly	2	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000252	HP:0000253	Progressive microcephaly	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0000252	HP:0004485	Cessation of head growth	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000252	HP:0000253	Progressive microcephaly	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000252	HP:0000253	Progressive microcephaly	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0000252	HP:0000253	Progressive microcephaly	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0000252	HP:0000253	Progressive microcephaly	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000252	HP:0000253	Progressive microcephaly	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000252	HP:0000253	Progressive microcephaly	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000252	HP:0000253	Progressive microcephaly	2	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent		1
HP:0000252	HP:0000253	Progressive microcephaly	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000252	HP:0000253	Progressive microcephaly	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0000252	HP:0000253	Progressive microcephaly	2	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0000252	HP:0000253	Progressive microcephaly	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0000252	HP:0000253	Progressive microcephaly	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0000252	HP:0000253	Progressive microcephaly	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0000252	HP:0000253	Progressive microcephaly	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.		3
HP:0000252	HP:0000253	Progressive microcephaly	2	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.		357
HP:0000252	HP:0000253	Progressive microcephaly	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0000252	HP:0000253	Progressive microcephaly	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.		166
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent		255
HP:0000252	HP:0000253	Progressive microcephaly	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0000252	HP:0000253	Progressive microcephaly	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000252	HP:0000253	Progressive microcephaly	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0000252	HP:0004485	Cessation of head growth	2	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		37
HP:0000252	HP:0000253	Progressive microcephaly	2	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	HP:0040282 - Frequent		416
HP:0000252	HP:0000253	Progressive microcephaly	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0000252	HP:0000253	Progressive microcephaly	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000252	HP:0000253	Progressive microcephaly	2	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0000252	HP:0000253	Progressive microcephaly	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.		3
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0000252	HP:0000253	Progressive microcephaly	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0000252	HP:0000253	Progressive microcephaly	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000252	HP:0004485	Cessation of head growth	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0000252	HP:0004485	Cessation of head growth	2	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional		278
HP:0000252	HP:0004485	Cessation of head growth	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent		278
HP:0000252	HP:0004485	Cessation of head growth	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0000252	HP:0000253	Progressive microcephaly	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0000252	HP:0000253	Progressive microcephaly	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0000252	HP:0000253	Progressive microcephaly	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000252	HP:0000253	Progressive microcephaly	2	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.		149
HP:0000252	HP:0000253	Progressive microcephaly	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000252	HP:0000253	Progressive microcephaly	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5

Genes (1246) :AAAS AARS1 AASS ABCA2 ACADS ACADSB ACADVL ACBD5 ACD ACE ACO2 ACSF3 ACSL4 ACTB ACTG1 ACTG2 ACTL6B ADA2 ADAM22 ADAMTSL1 ADAR ADARB1 ADAT3 ADD3 ADGRG1 ADH5 ADNP ADPRS ADSL AFF2 AFF3 AFF4 AGA AGGF1 AGT AGTPBP1 AGTR1 AHCY AHSG AIMP1 AIMP2 ALDH18A1 ALDH3A2 ALDH6A1 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG9 ALS2 ALX4 AMPD2 ANK1 ANKLE2 ANKRD11 ANKRD17 AP1S2 AP2M1 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 ARCN1 ARFGEF2 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARNT2 ARPC4 ARSL ARV1 ARVCF ARX ASH1L ASNS ASPA ASPM ASXL1 ASXL3 ATM ATP10A ATP11A ATP1A2 ATP1A3 ATP5F1A ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATP7A ATPAF2 ATR ATRIP ATRX AUH AUTS2 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCAP31 BCAS3 BCL11A BCL7B BCOR BCR BDNF BICRA BLM BMP15 BMP4 BNC1 BPTF BRAT1 BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRPF1 BUB1 BUB1B BUB3 BUD23 C2CD3 C2ORF69 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMK2A CAMK2B CAPN15 CARS1 CARS2 CASK CASZ1 CC2D1A CC2D2A CCDC32 CCDC47 CCDC8 CCDC88A CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDK10 CDK13 CDK19 CDK5 CDK5RAP2 CDK6 CDKL5 CDON CDT1 CELF2 CENPE CENPF CENPJ CENPT CEP135 CEP152 CEP290 CEP57 CEP63 CERT1 CFC1 CHAMP1 CHD2 CHD7 CHKA CHKB CHMP1A CHN1 CHRNA7 CHRNG CIT CKAP2L CLCN3 CLCN4 CLIP2 CLP1 CLPB CLPP CLTC CNKSR2 CNNM2 CNOT1 CNP CNTNAP1 COASY COG1 COG2 COG4 COG5 COG6 COG7 COG8 COL18A1 COL4A1 COMT COPB1 COPB2 COQ9 COX15 COX7B COX8A CPLX1 CPSF3 CPT2 CREBBP CRIPT CRKL CRPPA CSNK2A1 CSPP1 CTBP1 CTCF CTNNA2 CTNNB1 CTNND2 CTSD CTU2 CUL3 CUL4B CYB5A CYB5R3 CYFIP2 CYP26C1 DAG1 DALRD3 DCHS1 DCPS DCX DDB2 DDX11 DDX3X DDX59 DDX6 DEAF1 DEGS1 DENND5A DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHFR DHTKD1 DHX30 DHX37 DIAPH1 DISC1 DISP1 DKC1 DLAT DLD DLK1 DLL1 DLL3 DMXL2 DNA2 DNAJC21 DNAJC30 DNM1 DNM1L DNMT3A DOCK6 DOHH DOLK DONSON DPAGT1 DPF2 DPH2 DPM1 DPM2 DPP6 DPYD DSTYK DTYMK DYM DYNC1H1 DYNC1I2 DYRK1A EBF3 EDC3 EEF1A2 EFEMP2 EFL1 EFNB1 EFTUD2 EHMT1 EIF2AK2 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF3F EIF4H EIF5A ELAC2 ELN ELOVL4 EMC1 EMG1 EN1 ENTPD1 EOMES EP300 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ESCO2 ESS2 EXOC2 EXOC7 EXOC8 EXOSC1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXT1 EXT2 EXTL3 FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSA FARSB FAT4 FBLN5 FBN1 FBXL3 FBXL4 FBXO11 FBXW7 FDXR FGF12 FGF13 FGF8 FGFR1 FGFR3 FGFRL1 FH FIG4 FKBP6 FKRP FKTN FLCN FLII FLVCR2 FOXG1 FOXH1 FOXRED1 FRAS1 FREM1 FREM2 FRMD4A FSHR FTO FUS FUT8 FZD4 FZR1 G6PC3 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GALK1 GALNT2 GAS1 GATA1 GATA4 GATA6 GBA1 GEMIN4 GFM1 GFM2 GINS1 GJA1 GJA5 GJA8 GJB3 GJB4 GLE1 GLI2 GLS GLYCTK GMNN GMPPA GMPPB GNAO1 GNPAT GON7 GORAB GOT2 GP1BB GPKOW GPT2 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2A GRIN2B GRIN2D GRIP1 GRM7 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 H3-3A H3-3B H4C3 H4C5 HAAO HACE1 HBA1 HBA2 HCCS HCFC1 HCN1 HDAC4 HDAC8 HEATR3 HES7 HHAT HIRA HIVEP2 HMGA2 HMGB3 HMGCL HNMT HNRNPH1 HNRNPH2 HNRNPK HNRNPR HNRNPU HPDL HSD17B10 HSPD1 HSPG2 HTRA2 HUWE1 IARS1 IBA57 IER3IP1 IFIH1 IFT140 IFT74 IGF1 IGF1R IKBKG INPP5E INPP5K INSR INTS8 IPO8 IQSEC1 IQSEC2 ISCA1 ITGA3 ITGB6 ITPA JAM2 JAM3 JMJD1C KANSL1 KARS1 KAT5 KAT6A KAT6B KATNB1 KCNA1 KCNA2 KCNA4 KCNAB2 KCNB1 KCNH1 KCNJ2 KCNJ6 KCNMA1 KCNN2 KCNT1 KCTD7 KDM5C KDM6A KDSR KIF11 KIF14 KIF15 KIF1A KIF1C KIF2A KIF5A KIF5C KIFBP KIT KMT2A KMT2B KMT2C KMT2D KNL1 KYNU L1CAM LAGE3 LAMB2 LARGE1 LARP7 LARS1 LAS1L LDHD LEMD2 LEMD3 LETM1 LFNG LGI3 LIAS LIG4 LIMK1 LINGO1 LINS1 LIPT2 LMBRD2 LMNB1 LMNB2 LMX1B LONP1 LRP5 LSM11 LSS LTC4S LUZP1 MAB21L1 MACF1 MAD2L2 MAFB MAP1B MAPK1 MAPK8IP3 MAPKAPK5 MAPRE2 MASP1 MBD5 MBOAT7 MBTPS2 MCM4 MCM5 MCM7 MCOLN1 MCPH1 MCTP2 MDH1 MECP2 MED17 MED25 MED27 MEG3 MEIS2 MESD MESP2 METTL27 METTL5 MFF MFSD2A MGAT2 MGME1 MICOS13 MICU1 MID1 MINPP1 MIPEP MIR17HG MKS1 MLXIPL MMACHC MMP23B MOCS1 MOCS2 MORC2 MPC1 MPDU1 MPLKIP MRPS22 MRPS25 MRPS28 MRPS34 MSMO1 MTFMT MTHFR MTHFS MTRR MTSS2 MVK MYCN MYH3 MYMK MYMX MYO18B MYORG MYSM1 NAA10 NACC1 NADK2 NAGS NALCN NANS NAPB NARS1 NARS2 NAT8L NBEA NBN NCAPD2 NCAPD3 NCAPG2 NCAPH NCF1 ND1 ND2 ND3 NDE1 NDP NDUFA1 NDUFA11 NDUFA6 NDUFA8 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NECAP1 NEK9 NELFA NEUROD2 NEXMIF NF1 NFASC NFIX NGLY1 NHEJ1 NHP2 NIN NIPA1 NIPA2 NIPBL NKX2-1 NKX3-2 NODAL NOP10 NR5A1 NRCAM NSD1 NSD2 NSDHL NSF NSMCE2 NSRP1 NSUN2 NSUN3 NTNG1 NTNG2 NTRK2 NUBPL NUP107 NUP133 NUP188 NUP214 NUP37 NUP85 NUS1 OCA2 OCLN OFD1 OGDHL OGT ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD5 OTUD6B P4HTM PACS1 PAFAH1B1 PAH PAK3 PALB2 PAPPA2 PARN PARS2 PAX3 PAX6 PCDH12 PCDHGC4 PCGF2 PCLO PCNA PCNT PDCD6IP PDE2A PDGFB PDGFRB PDHA1 PDHX PDPN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHACTR1 PHC1 PHF6 PHF8 PHGDH PI4KA PIDD1 PIEZO2 PIGA PIGF PIGG PIGH PIGO PIGP PIGQ PIGS PISD PLAA PLCH1 PLEKHG2 PLK4 PLP1 PLPBP PLXNA1 PMM2 PMPCB PNKP PNPO POC1A POGZ POLA1 POLE POLG POLR1A POLR1B POLR2A POLR3B POLR3GL POLR3H POLR3K POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPFIBP1 PPP1R12A PPP1R15B PPP2CA PPP2R1A PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRIM1 PRKAR1B PRKCZ PRKD1 PRKDC PRMT7 PRORP PRR12 PRUNE1 PSAT1 PSMB1 PSMC1 PSMC3IP PSPH PTCH1 PTDSS1 PTEN PTF1A PTPN23 PTRH2 PTS PUF60 PURA PUS1 PUS3 PUS7 PYCR1 PYCR2 QARS1 QDPR QRICH1 RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD50 RAD51 RAD51C RAI1 RARS1 RARS2 RB1 RBBP8 RBM28 RBPJ RELN REN RERE RFC2 RFT1 RFWD3 RHOBTB2 RIPK4 RIPPLY2 RLIM RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF13 RNF168 RNF2 RNPC3 RNU4ATAC RNU7-1 RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS23 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RREB1 RRP7A RSPRY1 RSRC1 RTEL1 RTL1 RTTN RUSC2 RXYLT1 SALL1 SALL4 SAMD9L SAMHD1 SARS1 SASS6 SATB1 SATB2 SBF1 SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCUBE3 SCYL2 SDHB SDHD SEC24C SELENOI SEMA3E SEMA5A SEPSECS SERAC1 SET SF3B4 SGPL1 SHANK3 SHH SHMT2 SIGMAR1 SIK1 SIL1 SIN3A SIX3 SIX6 SKI SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC18A2 SLC1A2 SLC1A4 SLC20A2 SLC25A1 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC25A46 SLC2A1 SLC30A10 SLC30A9 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC38A3 SLC39A14 SLC5A6 SLC6A1 SLC6A8 SLC6A9 SLC9A6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMO SMPD4 SNAI2 SNAP29 SNRPB SNRPN SOX11 SOX2 SOX4 SP110 SPART SPATA5 SPATA5L1 SPEN SPG11 SPIDR SPOP SPR SPTAN1 SPTBN1 SPTLC1 SRCAP SRPX2 SSR4 ST3GAL5 STAC3 STAG1 STAG2 STAMBP STAT5B STIL STT3A STT3B STX1A STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SUOX SVBP SYNGAP1 SYNJ1 SZT2 TAF1 TAF13 TAF2 TAF6 TANC2 TANGO2 TAPT1 TARS1 TASP1 TAT TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBL1XR1 TBL2 TBX1 TBX4 TBX6 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP2 TECPR2 TELO2 TERT TET3 TFAP2A TGIF1 THOC2 THOC6 THUMPD1 TIMMDC1 TINF2 TLK2 TMCO1 TMEM107 TMEM126B TMEM165 TMEM216 TMEM222 TMEM231 TMEM237 TMEM260 TMEM270 TMEM67 TMEM70 TMTC3 TMX2 TNPO2 TNRC6B TOE1 TOP3A TOR1A TP53 TP53RK TPK1 TPRKB TRAIP TRAK1 TRAPPC10 TRAPPC11 TRAPPC12 TRAPPC14 TRAPPC2L TRAPPC4 TRAPPC6B TRAPPC9 TREX1 TRIM8 TRIO TRIP12 TRIP13 TRIT1 TRMT1 TRMT10A TRPS1 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TSPAN12 TSR2 TTC5 TTI2 TUBA1A TUBB TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP2 TUBGCP4 TUBGCP6 TUFM TXN2 TXNDC15 TYMS UBA5 UBE2T UBE3A UBE3B UBE4B UBR1 UBTF UFC1 UFD1 UFM1 UFSP2 UGDH UGP2 UNC80 UPB1 UQCRC2 USP18 USP7 VAC14 VARS1 VARS2 VIPAS39 VPS11 VPS13B VPS13D VPS33A VPS33B VPS37A VPS37D VPS4A VPS50 VPS51 VPS53 VRK1 WASHC4 WBP11 WDFY3 WDR26 WDR37 WDR4 WDR45B WDR62 WDR73 WLS WT1 WWOX XPA XPC XPR1 XRCC2 XRCC4 XYLT1 YARS1 YARS2 YIF1B YIPF5 YME1L1 YRDC YWHAG ZBTB11 ZBTB18 ZC4H2 ZEB2 ZIC1 ZIC2 ZMYM2 ZNF148 ZNF292 ZNF335 ZNF408 ZNF526 ZNF592 ZNF699 ZNHIT3 ZPR1 ZSWIM6 ZSWIM7

Diseases (1366) :OMIM:231550 ORPHA:869 OMIM:616339 ORPHA:442835 ORPHA:2203 OMIM:618808 ORPHA:26792 OMIM:610006 OMIM:201475 OMIM:618863 OMIM:616553 ORPHA:3322 OMIM:267430 OMIM:614559 ORPHA:289504 OMIM:300387 ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:2604 OMIM:618468 OMIM:618470 ORPHA:124 OMIM:617933 ORPHA:521445 ORPHA:51 OMIM:615010 OMIM:618862 ORPHA:363528 OMIM:615286 OMIM:617008 ORPHA:101070 ORPHA:98889 OMIM:619151 ORPHA:404448 OMIM:618170 OMIM:103050 ORPHA:46 OMIM:309548 OMIM:619297 OMIM:616368 ORPHA:444077 OMIM:208400 ORPHA:90308 OMIM:618276 ORPHA:2254 ORPHA:88618 ORPHA:2850 OMIM:260600 OMIM:618006 ORPHA:90348 ORPHA:447760 OMIM:616603 OMIM:616586 ORPHA:816 OMIM:614105 ORPHA:79327 OMIM:608540 ORPHA:280071 OMIM:613661 ORPHA:79324 OMIM:607143 OMIM:300884 ORPHA:79326 OMIM:607906 ORPHA:79321 OMIM:601110 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:205100 ORPHA:300605 OMIM:613451 OMIM:615809 ORPHA:251066 ORPHA:2512 OMIM:616681 OMIM:148050 ORPHA:2332 OMIM:619504 ORPHA:85329 ORPHA:1942 OMIM:608233 OMIM:617276 OMIM:617050 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 OMIM:617164 OMIM:608097 OMIM:100300 OMIM:617523 ORPHA:1465 OMIM:614607 ORPHA:251056 OMIM:135900 OMIM:615926 OMIM:620141 OMIM:302950 ORPHA:567 ORPHA:2508 OMIM:300004 OMIM:308350 ORPHA:1934 ORPHA:452 OMIM:617796 OMIM:615574 OMIM:271900 OMIM:608716 OMIM:605039 ORPHA:97297 ORPHA:352577 OMIM:615485 OMIM:208900 ORPHA:411515 OMIM:619851 OMIM:619605 OMIM:619602 OMIM:619606 OMIM:616045 ORPHA:357074 OMIM:219200 ORPHA:2834 OMIM:278250 OMIM:618012 ORPHA:79500 OMIM:309400 ORPHA:565 OMIM:604273 ORPHA:808 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:67046 ORPHA:352490 OMIM:615834 ORPHA:899 ORPHA:709 OMIM:261540 ORPHA:564 ORPHA:904 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:617101 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:261330 ORPHA:893 OMIM:619325 OMIM:210900 ORPHA:243 ORPHA:139471 OMIM:607932 OMIM:617755 OMIM:618056 OMIM:614498 ORPHA:84 OMIM:617883 OMIM:605724 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:617333 ORPHA:1052 OMIM:257300 ORPHA:434179 OMIM:615948 OMIM:619423 OMIM:618497 OMIM:618087 OMIM:617798 OMIM:617799 OMIM:619318 OMIM:618891 ORPHA:33364 OMIM:616672 OMIM:300749 ORPHA:163937 ORPHA:1606 OMIM:608443 OMIM:619123 OMIM:618268 OMIM:614205 OMIM:617507 OMIM:211750 ORPHA:1308 ORPHA:487796 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 OMIM:616910 ORPHA:1299 OMIM:617694 OMIM:617360 OMIM:616342 OMIM:604804 OMIM:616080 ORPHA:3095 OMIM:300672 ORPHA:93925 OMIM:614226 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:613804 OMIM:616051 OMIM:243605 OMIM:608393 OMIM:613676 OMIM:618702 OMIM:614673 OMIM:614852 OMIM:613823 OMIM:611134 OMIM:614114 OMIM:614728 OMIM:616351 OMIM:605376 OMIM:616579 OMIM:214800 ORPHA:138 OMIM:620023 OMIM:602541 OMIM:614961 ORPHA:233 ORPHA:199318 ORPHA:2990 OMIM:617090 ORPHA:3255 OMIM:272440 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 OMIM:615803 ORPHA:445038 OMIM:616271 OMIM:619835 OMIM:614129 OMIM:617854 OMIM:616418 OMIM:618500 OMIM:619071 OMIM:618186 OMIM:618266 ORPHA:263508 OMIM:611209 ORPHA:435934 OMIM:617395 ORPHA:263501 OMIM:613489 ORPHA:85172 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:363523 OMIM:615328 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:611182 OMIM:267750 OMIM:619255 OMIM:619884 OMIM:617800 OMIM:614654 OMIM:615119 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619059 ORPHA:280 OMIM:194190 OMIM:619876 OMIM:608836 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:615789 ORPHA:370980 OMIM:617062 ORPHA:363611 OMIM:615502 OMIM:618174 ORPHA:891 OMIM:615075 ORPHA:404473 ORPHA:281 OMIM:610127 OMIM:618142 OMIM:619239 ORPHA:85293 ORPHA:621 OMIM:250800 OMIM:618008 ORPHA:398189 OMIM:618910 ORPHA:314679 OMIM:616459 ORPHA:2148 ORPHA:910 OMIM:613398 OMIM:300958 ORPHA:457260 ORPHA:2919 OMIM:174300 OMIM:618653 ORPHA:468620 ORPHA:819 OMIM:618404 OMIM:617281 OMIM:192430 OMIM:251880 ORPHA:35107 OMIM:602398 ORPHA:818 OMIM:270400 OMIM:613839 OMIM:204750 OMIM:617804 OMIM:618731 OMIM:616632 ORPHA:171703 OMIM:305000 OMIM:245348 ORPHA:79244 OMIM:246900 ORPHA:2394 ORPHA:96334 OMIM:618709 ORPHA:2311 OMIM:615807 OMIM:617052 OMIM:614388 OMIM:618724 OMIM:614219 OMIM:620066 OMIM:610768 ORPHA:91131 OMIM:617604 OMIM:251230 OMIM:608093 ORPHA:86309 OMIM:620062 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:2514 OMIM:616311 ORPHA:1675 OMIM:274270 OMIM:270750 OMIM:619847 ORPHA:239 OMIM:223800 OMIM:607326 OMIM:614563 OMIM:618492 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:617330 OMIM:616460 OMIM:616409 OMIM:616393 OMIM:614437 OMIM:617941 ORPHA:1520 OMIM:610536 ORPHA:79113 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:618877 OMIM:226980 ORPHA:1667 OMIM:603896 OMIM:300148 ORPHA:85282 OMIM:618295 OMIM:619376 OMIM:615440 OMIM:614457 OMIM:616875 ORPHA:480898 OMIM:211180 ORPHA:1270 OMIM:619218 ORPHA:401810 OMIM:615683 OMIM:613684 ORPHA:353284 OMIM:242840 OMIM:617951 OMIM:610758 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:278730 ORPHA:220295 OMIM:610651 OMIM:615272 OMIM:278760 OMIM:610965 OMIM:616570 OMIM:278780 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:615715 OMIM:216400 OMIM:216100 ORPHA:2319 OMIM:268300 ORPHA:3103 OMIM:619306 OMIM:619072 OMIM:619076 OMIM:619304 OMIM:614678 OMIM:619576 OMIM:618065 ORPHA:502 OMIM:616682 ORPHA:466926 OMIM:617425 ORPHA:508533 ORPHA:1832 OMIM:259775 OMIM:227650 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 ORPHA:438178 OMIM:616154 OMIM:614946 OMIM:619013 OMIM:613658 OMIM:219100 ORPHA:2462 OMIM:606220 OMIM:615471 OMIM:618089 OMIM:620012 ORPHA:543470 OMIM:617166 OMIM:615465 OMIM:190440 OMIM:610474 ORPHA:85165 OMIM:606812 ORPHA:208441 ORPHA:3472 OMIM:216340 ORPHA:370959 ORPHA:370968 OMIM:236670 OMIM:606612 OMIM:610883 OMIM:225790 ORPHA:261144 OMIM:613454 ORPHA:2609 OMIM:618241 OMIM:219000 ORPHA:2052 OMIM:614485 OMIM:616819 ORPHA:466688 OMIM:612938 OMIM:618005 OMIM:612541 OMIM:617903 OMIM:618557 OMIM:618559 OMIM:617829 ORPHA:79237 OMIM:618885 ORPHA:251071 OMIM:600001 OMIM:608013 OMIM:617913 OMIM:609060 ORPHA:565624 OMIM:618397 OMIM:617827 ORPHA:317 OMIM:164200 OMIM:612474 OMIM:611890 OMIM:610829 OMIM:618339 ORPHA:941 OMIM:220120 OMIM:616835 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:615352 OMIM:617493 OMIM:222765 OMIM:619603 OMIM:231070 OMIM:618721 ORPHA:2570 OMIM:616281 ORPHA:477673 OMIM:618917 OMIM:617864 OMIM:619580 ORPHA:208447 OMIM:619814 OMIM:614254 ORPHA:289266 OMIM:245570 OMIM:616139 OMIM:613970 OMIM:617162 OMIM:618922 OMIM:616943 OMIM:617988 OMIM:619720 OMIM:619721 OMIM:619758 OMIM:619950 OMIM:617660 OMIM:616756 ORPHA:464282 ORPHA:98791 OMIM:309541 OMIM:618482 ORPHA:1001 OMIM:300882 OMIM:620072 ORPHA:1422 OMIM:600092 OMIM:616977 ORPHA:94063 OMIM:300915 ORPHA:20 OMIM:246450 OMIM:616739 OMIM:620083 OMIM:300986 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:238769 OMIM:617391 OMIM:619026 ORPHA:391428 OMIM:612233 ORPHA:1865 ORPHA:800 OMIM:617248 OMIM:309590 ORPHA:541423 OMIM:617093 OMIM:615330 OMIM:614231 OMIM:615846 OMIM:266920 OMIM:617119 ORPHA:73272 OMIM:608747 ORPHA:73273 OMIM:270450 OMIM:308300 OMIM:213300 ORPHA:559 OMIM:617404 ORPHA:508 OMIM:618572 OMIM:619472 OMIM:618687 OMIM:309530 ORPHA:397933 OMIM:617613 OMIM:614748 OMIM:616647 ORPHA:1980 OMIM:613730 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619147 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:616212 ORPHA:89844 OMIM:618284 ORPHA:420561 OMIM:170390 ORPHA:435628 OMIM:614098 OMIM:618596 OMIM:619725 OMIM:614959 OMIM:611726 ORPHA:263516 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:152950 ORPHA:2526 OMIM:616258 OMIM:617914 OMIM:619981 ORPHA:261323 OMIM:614255 ORPHA:2836 ORPHA:397946 OMIM:615411 OMIM:617235 OMIM:615282 ORPHA:66629 OMIM:609460 ORPHA:2884 ORPHA:319182 OMIM:619934 ORPHA:589618 OMIM:617284 OMIM:617768 OMIM:604321 OMIM:617661 OMIM:304100 OMIM:303350 ORPHA:1497 ORPHA:2065 OMIM:301006 OMIM:609049 OMIM:615071 OMIM:615438 OMIM:309585 OMIM:245450 OMIM:619322 OMIM:620007 OMIM:614462 ORPHA:235 ORPHA:99812 OMIM:606593 OMIM:618103 OMIM:614340 OMIM:617668 OMIM:619694 OMIM:619179 OMIM:619180 ORPHA:495818 ORPHA:79243 OMIM:259770 OMIM:618840 OMIM:614037 OMIM:618479 OMIM:618325 OMIM:617243 OMIM:618918 OMIM:619087 OMIM:618443 OMIM:619869 ORPHA:2505 OMIM:616734 OMIM:257920 ORPHA:228402 OMIM:156200 OMIM:617188 ORPHA:85284 ORPHA:2273 OMIM:308205 OMIM:609981 OMIM:617564 OMIM:252650 ORPHA:578 OMIM:251200 ORPHA:1596 OMIM:618959 OMIM:300673 OMIM:300260 OMIM:300055 ORPHA:778 OMIM:312750 OMIM:613668 ORPHA:464738 OMIM:616449 OMIM:619286 ORPHA:261190 OMIM:600987 OMIM:618644 OMIM:618665 OMIM:617086 ORPHA:485421 OMIM:616486 OMIM:212066 ORPHA:79329 OMIM:615084 ORPHA:352447 OMIM:618329 OMIM:615673 ORPHA:401768 ORPHA:2745 OMIM:300000 ORPHA:284339 OMIM:617228 ORPHA:391646 OMIM:249000 ORPHA:79282 OMIM:277400 OMIM:252150 OMIM:252160 ORPHA:466768 OMIM:619090 OMIM:614741 OMIM:609180 OMIM:234050 OMIM:611719 OMIM:619025 OMIM:618958 OMIM:617664 OMIM:616834 OMIM:614947 OMIM:236250 ORPHA:395 OMIM:618367 ORPHA:2169 OMIM:620086 ORPHA:29 OMIM:610377 OMIM:164280 ORPHA:391641 OMIM:193700 OMIM:178110 OMIM:254940 ORPHA:1358 OMIM:616549 OMIM:618116 OMIM:300855 OMIM:617393 ORPHA:500545 OMIM:616034 ORPHA:431361 ORPHA:927 OMIM:615419 ORPHA:371364 OMIM:610442 OMIM:620033 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:614063 OMIM:619157 OMIM:251260 ORPHA:647 OMIM:617983 OMIM:617984 OMIM:618460 OMIM:617985 ORPHA:2177 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:618236 OMIM:619272 OMIM:619170 OMIM:618226 OMIM:252010 OMIM:618229 ORPHA:64754 OMIM:300912 ORPHA:139474 OMIM:618356 ORPHA:447980 ORPHA:404454 OMIM:615273 ORPHA:169079 OMIM:224230 ORPHA:319675 OMIM:614851 ORPHA:261183 OMIM:122470 ORPHA:209905 OMIM:613330 OMIM:619833 ORPHA:228415 OMIM:619695 OMIM:300831 ORPHA:251383 OMIM:619340 OMIM:617253 OMIM:620001 OMIM:611091 OMIM:619012 OMIM:618718 OMIM:617830 OMIM:618348 OMIM:618349 OMIM:618804 OMIM:618426 OMIM:618179 OMIM:617082 ORPHA:98794 OMIM:251290 ORPHA:1229 OMIM:311200 OMIM:619701 OMIM:300997 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:617729 OMIM:259720 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:618493 ORPHA:329224 OMIM:607432 ORPHA:95232 ORPHA:79254 ORPHA:2209 OMIM:300558 OMIM:610832 OMIM:619489 OMIM:616353 OMIM:618437 ORPHA:896 OMIM:148820 OMIM:251280 OMIM:619880 OMIM:618371 OMIM:608027 OMIM:615919 ORPHA:438134 ORPHA:2637 OMIM:210720 OMIM:620047 OMIM:619150 OMIM:312170 OMIM:245349 ORPHA:255182 OMIM:619055 ORPHA:912 OMIM:614886 OMIM:616716 OMIM:215100 OMIM:615802 OMIM:614207 OMIM:615716 OMIM:618298 OMIM:615414 ORPHA:127 OMIM:301900 OMIM:300263 ORPHA:79351 OMIM:256520 OMIM:601815 OMIM:619827 OMIM:248700 ORPHA:2461 OMIM:300868 OMIM:301072 OMIM:619356 OMIM:618010 OMIM:614749 OMIM:617599 OMIM:618143 OMIM:618889 OMIM:617527 ORPHA:521426 OMIM:619895 OMIM:616763 ORPHA:2518 OMIM:616171 OMIM:312080 OMIM:617290 OMIM:619955 OMIM:212065 OMIM:617954 OMIM:613402 ORPHA:79096 OMIM:610090 OMIM:614813 ORPHA:468678 OMIM:616364 OMIM:301030 ORPHA:163976 OMIM:618336 ORPHA:726 OMIM:616462 OMIM:618939 OMIM:618603 OMIM:619742 OMIM:619234 OMIM:619310 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:615249 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:201750 OMIM:305600 OMIM:620024 OMIM:618820 OMIM:616817 ORPHA:391408 OMIM:618354 OMIM:616362 OMIM:256730 ORPHA:93946 OMIM:309500 ORPHA:93947 ORPHA:93950 OMIM:620005 OMIM:619680 OMIM:617364 OMIM:615966 OMIM:617157 ORPHA:464288 OMIM:619737 OMIM:619539 OMIM:617481 ORPHA:544469 OMIM:616038 OMIM:610992 ORPHA:284417 OMIM:620038 OMIM:620071 ORPHA:79350 OMIM:614023 OMIM:151050 OMIM:609069 OMIM:618890 ORPHA:456312 OMIM:616263 OMIM:261640 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:438216 ORPHA:2598 OMIM:600462 OMIM:617051 ORPHA:488627 OMIM:618342 OMIM:612940 OMIM:616420 ORPHA:481152 OMIM:615760 ORPHA:226 OMIM:261630 OMIM:617982 OMIM:617807 ORPHA:2510 OMIM:614222 ORPHA:1387 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:614225 OMIM:617751 ORPHA:500159 OMIM:614701 OMIM:613078 OMIM:617244 ORPHA:1713 OMIM:616140 ORPHA:438114 OMIM:611523 ORPHA:1587 OMIM:251255 OMIM:606744 OMIM:612079 ORPHA:157954 OMIM:614814 OMIM:257320 OMIM:616975 OMIM:612015 ORPHA:244310 OMIM:617784 OMIM:618004 ORPHA:1234 OMIM:300978 OMIM:610333 OMIM:610181 OMIM:610329 OMIM:612951 OMIM:300953 OMIM:618379 ORPHA:544503 ORPHA:420741 OMIM:611943 OMIM:619460 OMIM:618160 OMIM:226960 ORPHA:1824 ORPHA:2636 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:619487 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:105650 OMIM:617412 OMIM:303600 ORPHA:192 OMIM:619453 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:615190 ORPHA:468631 OMIM:614833 OMIM:617773 OMIM:107480 ORPHA:2585 OMIM:612952 OMIM:617709 OMIM:616402 OMIM:619228 OMIM:619229 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:615284 OMIM:607330 ORPHA:46059 OMIM:607208 OMIM:617935 OMIM:617938 OMIM:614558 OMIM:619184 OMIM:618766 OMIM:619224 OMIM:619167 ORPHA:506353 OMIM:618768 ORPHA:2524 OMIM:613811 OMIM:614739 OMIM:618106 OMIM:154400 OMIM:617575 OMIM:606232 OMIM:142945 OMIM:147250 OMIM:619121 OMIM:248800 ORPHA:94065 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:182212 OMIM:616645 ORPHA:1496 OMIM:615905 ORPHA:59 OMIM:300523 ORPHA:352649 OMIM:617105 OMIM:616657 ORPHA:447997 OMIM:615182 OMIM:612949 ORPHA:99742 OMIM:607196 ORPHA:159 OMIM:609304 OMIM:612289 ORPHA:71277 OMIM:606777 ORPHA:168577 OMIM:608885 ORPHA:309854 OMIM:617595 OMIM:603585 OMIM:300896 ORPHA:356961 OMIM:615553 OMIM:266265 ORPHA:99843 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:618973 OMIM:300352 ORPHA:52503 OMIM:617301 ORPHA:85278 OMIM:300243 OMIM:613951 OMIM:139210 ORPHA:2728 ORPHA:3051 OMIM:601358 OMIM:614609 OMIM:614608 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:616920 OMIM:241800 OMIM:618622 ORPHA:66631 OMIM:609528 OMIM:117650 ORPHA:1393 OMIM:105830 ORPHA:177907 OMIM:615866 OMIM:618506 ORPHA:79124 OMIM:235550 ORPHA:101000 OMIM:616577 ORPHA:457351 OMIM:619616 OMIM:619312 OMIM:618828 ORPHA:70594 OMIM:612716 OMIM:613477 OMIM:619475 OMIM:619595 OMIM:300934 ORPHA:370927 OMIM:609056 OMIM:255995 OMIM:617635 ORPHA:502434 OMIM:301043 OMIM:301022 OMIM:614261 OMIM:618985 OMIM:612703 OMIM:615596 OMIM:619714 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:1933 ORPHA:17 ORPHA:585 OMIM:272300 OMIM:618569 OMIM:612621 ORPHA:544254 OMIM:300966 ORPHA:480907 OMIM:617432 OMIM:615599 ORPHA:397951 OMIM:617126 OMIM:618906 OMIM:616878 ORPHA:480864 OMIM:616897 OMIM:618950 ORPHA:28378 OMIM:615663 OMIM:617695 OMIM:220500 OMIM:615338 ORPHA:352596 ORPHA:496641 OMIM:617193 ORPHA:93324 OMIM:241410 ORPHA:2323 ORPHA:488632 ORPHA:487825 OMIM:602342 ORPHA:1727 OMIM:188400 ORPHA:261279 ORPHA:1797 OMIM:610954 ORPHA:2896 OMIM:613885 ORPHA:2753 OMIM:616949 ORPHA:320385 OMIM:615031 ORPHA:488642 OMIM:616954 OMIM:613989 OMIM:618798 OMIM:113620 OMIM:300957 ORPHA:457240 OMIM:613680 OMIM:619989 OMIM:613990 OMIM:618050 OMIM:213980 OMIM:614727 OMIM:619470 OMIM:617478 ORPHA:1194 OMIM:617255 OMIM:618730 OMIM:619556 OMIM:619243 OMIM:614969 OMIM:618097 OMIM:618947 OMIM:618165 OMIM:617730 OMIM:614458 OMIM:617731 OMIM:616777 OMIM:618201 OMIM:620027 OMIM:615356 ORPHA:369840 ORPHA:500144 OMIM:617669 OMIM:618351 OMIM:618331 OMIM:618741 OMIM:617862 ORPHA:352530 OMIM:613192 OMIM:225750 OMIM:619428 OMIM:617061 ORPHA:476126 OMIM:617752 OMIM:617598 OMIM:617873 OMIM:618302 OMIM:616033 OMIM:618454 OMIM:617026 OMIM:612389 OMIM:612390 ORPHA:166063 OMIM:277470 OMIM:225753 OMIM:610204 OMIM:619244 OMIM:615541 ORPHA:391307 OMIM:611603 ORPHA:171680 ORPHA:467166 OMIM:615771 OMIM:156610 OMIM:610031 ORPHA:300573 ORPHA:300570 OMIM:614039 OMIM:612438 OMIM:615412 OMIM:618737 OMIM:616335 OMIM:251270 OMIM:610678 ORPHA:478029 OMIM:616811 OMIM:620040 OMIM:617132 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:2707 ORPHA:2315 OMIM:243800 ORPHA:500180 OMIM:618076 OMIM:617899 OMIM:620028 OMIM:618792 OMIM:618744 OMIM:616801 OMIM:613161 OMIM:615160 OMIM:617397 ORPHA:500055 OMIM:617802 OMIM:615917 OMIM:613404 OMIM:616683 ORPHA:466934 ORPHA:193 OMIM:216550 OMIM:607317 OMIM:617303 OMIM:208085 ORPHA:319199 OMIM:619273 OMIM:619685 OMIM:618606 OMIM:615851 OMIM:607596 OMIM:615817 OMIM:619227 OMIM:617520 ORPHA:513456 OMIM:618652 OMIM:618347 OMIM:618346 OMIM:617977 OMIM:604317 ORPHA:83472 OMIM:251300 OMIM:619648 OMIM:616211 OMIM:614322 OMIM:278700 OMIM:617247 OMIM:616541 OMIM:615777 ORPHA:370930 OMIM:619418 OMIM:619125 OMIM:619278 OMIM:617302 OMIM:619609 OMIM:618383 ORPHA:36367 OMIM:612337 OMIM:314580 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:618736 OMIM:609637 OMIM:619522 OMIM:617260 OMIM:619188 ORPHA:329228 OMIM:615095 OMIM:619877 OMIM:619488 OMIM:260565 OMIM:619321 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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