Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skull size (HP:0000240)help
Parent Node:
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Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
Parent Node:
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Decreased head circumference (HP:0040195)help
..Starting node
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Microcephaly (HP:0000252)help
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:
........expandProgressive microcephaly (HP:0000253) help
........expandPostnatal microcephaly (HP:0005484) help
................... HP:0004485 Cessation of head growth
........expandCongenital microcephaly (HP:0011451) help

 Sister Nodes: 
..expandMild microcephaly (HP:0040196) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000252HP:0000252Microcephaly0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM1799913666605378
HP:0000252HP:0000252Microcephaly0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0000252HP:0000252Microcephaly0ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0000252HP:0000252Microcephaly0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11522991600301
HP:0000252HP:0000252Microcephaly0ACD CL E G H650573322ORPHA1913525070609377
HP:0000252HP:0000252Microcephaly0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM1913525070609377
HP:0000252HP:0000252Microcephaly0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM1552282707106180
HP:0000252HP:0000252Microcephaly0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0000252HP:0000252Microcephaly0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0000252HP:0000252Microcephaly0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0000252HP:0000252Microcephaly0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000252HP:0000252Microcephaly0ADAR CL E G H10351ORPHA1229316225146920
HP:0000252HP:0000252Microcephaly0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM1847245601568
HP:0000252HP:0000252Microcephaly0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0000252HP:0000252Microcephaly0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000252HP:0000252Microcephaly0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM127130333106150
HP:0000252HP:0000252Microcephaly0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM11678336106165
HP:0000252HP:0000252Microcephaly0AHSG CL E G H1972850ORPHA1657349138680
HP:0000252HP:0000252Microcephaly0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM1332529722138250
HP:0000252HP:0000252Microcephaly0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H5605279327ORPHA14416818294605907
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0000252HP:0000252Microcephaly0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H1019579321ORPHA11912323056608750
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0000252HP:0000252Microcephaly0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM127221450605420
HP:0000252HP:0000252Microcephaly0ANK1 CL E G H286251066ORPHA1111388492612641
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H231412512ORPHA128129101616062
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H291232332ORPHA113472121316611192
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM113472121316611192
HP:0000252HP:0000252Microcephaly0AP1S2 CL E G H890585329ORPHA114204560300629
HP:0000252HP:0000252Microcephaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000252HP:0000252Microcephaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1490568607246
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717280763ORPHA121140572607245
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431280763ORPHA118178573607244
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179280763ORPHA115150574602296
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154280763ORPHA1859575607243
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1859575607243
HP:0000252HP:0000252Microcephaly0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000252HP:0000252Microcephaly0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0000252HP:0000252Microcephaly0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000252HP:0000252Microcephaly0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000252HP:0000252Microcephaly0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM146719300180
HP:0000252HP:0000252Microcephaly0ARX CL E G H1703022508ORPHA19846618060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302452ORPHA19846618060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM19846618060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0000252HP:0000252Microcephaly0ASPM CL E G H2592662512ORPHA121379019048605481
HP:0000252HP:0000252Microcephaly0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000252HP:0000252Microcephaly0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15017429357615115
HP:0000252HP:0000252Microcephaly0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1390823164360
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM15630918481611716
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538565ORPHA1357607869300011
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0000252HP:0000252Microcephaly0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1218718802608918
HP:0000252HP:0000252Microcephaly0ATR CL E G H545808Baker Vinters syndromeORPHA134404882601215
HP:0000252HP:0000252Microcephaly0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000252HP:0000252Microcephaly0ATRIP CL E G H84126808Baker Vinters syndromeORPHA1218333499606605
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546847ORPHA1170663886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000252HP:0000252Microcephaly0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16224214262607270
HP:0000252HP:0000252Microcephaly0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000252HP:0000252Microcephaly0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000252HP:0000252Microcephaly0B9D2 CL E G H80776564ORPHA144028636611951
HP:0000252HP:0000252Microcephaly0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134369939ORPHA1924716695300398
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM1924716695300398
HP:0000252HP:0000252Microcephaly0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM1328713221606557
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000252HP:0000252Microcephaly0BCR CL E G H613261330ORPHA122111014151410
HP:0000252HP:0000252Microcephaly0BDNF CL E G H627893ORPHA135431033113505
HP:0000252HP:0000252Microcephaly0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM113115161058604610
HP:0000252HP:0000252Microcephaly0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0000252HP:0000252Microcephaly0BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0000252HP:0000252Microcephaly0BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0000252HP:0000252Microcephaly0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM11712311551604902
HP:0000252HP:0000252Microcephaly0BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0000252HP:0000252Microcephaly0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000252HP:0000252Microcephaly0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0000252HP:0000252Microcephaly0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM11012324564615944
HP:0000252HP:0000252Microcephaly0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000252HP:0000252Microcephaly0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000252HP:0000252Microcephaly0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000252HP:0000252Microcephaly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000252HP:0000252Microcephaly0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA134716892606037
HP:0000252HP:0000252Microcephaly0CDC45 CL E G H83182554ORPHA1193981739603465
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H9902554ORPHA14581744602627
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0000252HP:0000252Microcephaly0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0000252HP:0000252Microcephaly0CDH11 CL E G H10091299ORPHA110401750600023
HP:0000252HP:0000252Microcephaly0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM15751774123831
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H557552512ORPHA12333518672608201
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM12333518672608201
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H10212512ORPHA11321777603368
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H1021616080Primary autosomal recessive microcephaly 12616080C4015156OMIM11321777603368
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H67923095ORPHA1388104611411300203
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937280200ORPHA11339117104608707
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM11339117104608707
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H816202554ORPHA11215824576605525
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062808Baker Vinters syndromeORPHA141001856117143
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H558352512ORPHA11028517272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835808Baker Vinters syndromeORPHA11028517272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM11028517272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM11028517272609279
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H96622512ORPHA148829086611423
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM148829086611423
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H229952512ORPHA12025229298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995808Baker Vinters syndromeORPHA12025229298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995614852Primary autosomal recessive microcephaly 9614852C3553886OMIM12025229298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM12025229298613529
HP:0000252HP:0000252Microcephaly0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000252HP:0000252Microcephaly0CEP55 CL E G H55165564ORPHA12341161610000
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM1515530794607951
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H802542512ORPHA129325815614724
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM129325815614724
HP:0000252HP:0000252Microcephaly0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0000252HP:0000252Microcephaly0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272821938612395
HP:0000252HP:0000252Microcephaly0CHRNG CL E G H11462990ORPHA1351601967100730
HP:0000252HP:0000252Microcephaly0CHUK CL E G H1147613630Cocoon syndrome613630C3150891OMIM15301974600664
HP:0000252HP:0000252Microcephaly0CIT CL E G H111132512ORPHA1151131985605629
HP:0000252HP:0000252Microcephaly0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM1151131985605629
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA174226877616174
HP:0000252HP:0000252Microcephaly0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000252HP:0000252Microcephaly0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0000252HP:0000252Microcephaly0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM17131103607803
HP:0000252HP:0000252Microcephaly0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM121758011602346
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583985172ORPHA1614118620606976
HP:0000252HP:0000252Microcephaly0COG4 CL E G H25839263501ORPHA1614118620606976
HP:0000252HP:0000252Microcephaly0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762512ORPHA14332232606990
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM14332232606990
HP:0000252HP:0000252Microcephaly0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM151882263603646
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM151642291300885
HP:0000252HP:0000252Microcephaly0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000252HP:0000252Microcephaly0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000252HP:0000252Microcephaly0CRKL CL E G H1399261330ORPHA1163762363602007
HP:0000252HP:0000252Microcephaly0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM1201022457115440
HP:0000252HP:0000252Microcephaly0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000252HP:0000252Microcephaly0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000252HP:0000252Microcephaly0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM1541802514116806
HP:0000252HP:0000252Microcephaly0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA1371612516604275
HP:0000252HP:0000252Microcephaly0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1193322529116840
HP:0000252HP:0000252Microcephaly0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0000252HP:0000252Microcephaly0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0000252HP:0000252Microcephaly0CYP26C1 CL E G H340665398189ORPHA1113320577608428
HP:0000252HP:0000252Microcephaly0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM129529812610534
HP:0000252HP:0000252Microcephaly0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM17972736601150
HP:0000252HP:0000252Microcephaly0DDX3X CL E G H1654457260ORPHA1783372745300160
HP:0000252HP:0000252Microcephaly0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM133902845600594
HP:0000252HP:0000252Microcephaly0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM133172846601279
HP:0000252HP:0000252Microcephaly0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM123812847609030
HP:0000252HP:0000252Microcephaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0000252HP:0000252Microcephaly0DHCR24 CL E G H171835107ORPHA1101372859606418
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717818ORPHA12183762860602858
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000252HP:0000252Microcephaly0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM11813823537614984
HP:0000252HP:0000252Microcephaly0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1153592876602121
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H84976280200ORPHA11110019711607502
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H17363322ORPHA1753222890300126
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0000252HP:0000252Microcephaly0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151012896608770
HP:0000252HP:0000252Microcephaly0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1232022898238331
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H28514280200ORPHA1191322908606582
HP:0000252HP:0000252Microcephaly0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM181462939601810
HP:0000252HP:0000252Microcephaly0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1201972973603850
HP:0000252HP:0000252Microcephaly0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0000252HP:0000252Microcephaly0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H179886309ORPHA1421572995191350
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0000252HP:0000252Microcephaly0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000252HP:0000252Microcephaly0DPM1 CL E G H881379322ORPHA191203005603503
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H18042514ORPHA111813010126141
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM111813010126141
HP:0000252HP:0000252Microcephaly0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0000252HP:0000252Microcephaly0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM1115029043612666
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808239ORPHA13712421317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM13712421317607461
HP:0000252HP:0000252Microcephaly0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM114326114609842
HP:0000252HP:0000252Microcephaly0EFNB1 CL E G H19471520ORPHA11181813226300035
HP:0000252HP:0000252Microcephaly0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981396147ORPHA19474624650607001
HP:0000252HP:0000252Microcephaly0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM1811253255604032
HP:0000252HP:0000252Microcephaly0EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0000252HP:0000252Microcephaly0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H104361270ORPHA115916912611531
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM115916912611531
HP:0000252HP:0000252Microcephaly0ENTPD1 CL E G H953401810ORPHA16533363601752
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM11074153373602700
HP:0000252HP:0000252Microcephaly0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM18533433126380
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068220295ORPHA11082273434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11082273434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11082273434126340
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071220295ORPHA1201223435133510
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201223435133510
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H207284ORPHA1723483436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072220295ORPHA1723483436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM1723483436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM1723483436133520
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073220295ORPHA1592633437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM1592633437133530
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11404993438609413
HP:0000252HP:0000252Microcephaly0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0000252HP:0000252Microcephaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H1575703103ORPHA13121527230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000252HP:0000252Microcephaly0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM1138216817601755
HP:0000252HP:0000252Microcephaly0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12813922140611061
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM12813922140611061
HP:0000252HP:0000252Microcephaly0FANCA CL E G H217584ORPHA168917063582607139
HP:0000252HP:0000252Microcephaly0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168917063582607139
HP:0000252HP:0000252Microcephaly0FANCB CL E G H218784ORPHA1213523583300515
HP:0000252HP:0000252Microcephaly0FANCC CL E G H217684ORPHA1658823584613899
HP:0000252HP:0000252Microcephaly0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1658823584613899
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H217784ORPHA1644293585613984
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1644293585613984
HP:0000252HP:0000252Microcephaly0FANCE CL E G H217884ORPHA1172013586613976
HP:0000252HP:0000252Microcephaly0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1172013586613976
HP:0000252HP:0000252Microcephaly0FANCF CL E G H218884ORPHA1162023587613897
HP:0000252HP:0000252Microcephaly0FANCG CL E G H218984ORPHA1923253588602956
HP:0000252HP:0000252Microcephaly0FANCI CL E G H5521584ORPHA14552125568611360
HP:0000252HP:0000252Microcephaly0FANCL CL E G H5512084ORPHA12417620748608111
HP:0000252HP:0000252Microcephaly0FANCM CL E G H5769784ORPHA15369723168609644
HP:0000252HP:0000252Microcephaly0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0000252HP:0000252Microcephaly0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0000252HP:0000252Microcephaly0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM1231423602604580
HP:0000252HP:0000252Microcephaly0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H2253280200ORPHA141543686600483
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260280200ORPHA12653883688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260190440Trigonocephaly 1190440C0432122OMIM12653883688136350
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H226185165ORPHA1774313690134934
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM1774313690134934
HP:0000252HP:0000252Microcephaly0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000252HP:0000252Microcephaly0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM12168903700136850
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM114140217997606596
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000252HP:0000252Microcephaly0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000252HP:0000252Microcephaly0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H22903095ORPHA11693573811164874
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H8928280200ORPHA1331883814603621
HP:0000252HP:0000252Microcephaly0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000252HP:0000252Microcephaly0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0000252HP:0000252Microcephaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95683095ORPHA182094507607340
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM182094507607340
HP:0000252HP:0000252Microcephaly0GABRD CL E G H25631606ORPHA172784084137163
HP:0000252HP:0000252Microcephaly0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM171024092605363
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H2619280200ORPHA16424165139185
HP:0000252HP:0000252Microcephaly0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0000252HP:0000252Microcephaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0000252HP:0000252Microcephaly0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11091414274121014
HP:0000252HP:0000252Microcephaly0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM1373504279121013
HP:0000252HP:0000252Microcephaly0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM1633474281600897
HP:0000252HP:0000252Microcephaly0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA1401224285603324
HP:0000252HP:0000252Microcephaly0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA121464286605425
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736280200ORPHA1883724318165230
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0000252HP:0000252Microcephaly0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0000252HP:0000252Microcephaly0GMNN CL E G H510532554ORPHA132117493602842
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14915122932615320
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14915122932615320
HP:0000252HP:0000252Microcephaly0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM1161444416602744
HP:0000252HP:0000252Microcephaly0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM11610825676607983
HP:0000252HP:0000252Microcephaly0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA1216330677301003
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA1105818062138210
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM1105818062138210
HP:0000252HP:0000252Microcephaly0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0000252HP:0000252Microcephaly0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM12694651189964
HP:0000252HP:0000252Microcephaly0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000252HP:0000252Microcephaly0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000252HP:0000252Microcephaly0HBA1 CL E G H303998791ORPHA12173464823141800
HP:0000252HP:0000252Microcephaly0HBA2 CL E G H304098791ORPHA12962744824141850
HP:0000252HP:0000252Microcephaly0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0000252HP:0000252Microcephaly0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0000252HP:0000252Microcephaly0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000252HP:0000252Microcephaly0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0000252HP:0000252Microcephaly0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000252HP:0000252Microcephaly0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM14355028605238
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192238769ORPHA1683215048602869
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM1683215048602869
HP:0000252HP:0000252Microcephaly0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM1155330600709
HP:0000252HP:0000252Microcephaly0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM12311327302615316
HP:0000252HP:0000252Microcephaly0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM148318550609382
HP:0000252HP:0000252Microcephaly0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0000252HP:0000252Microcephaly0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM1410021424608040
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H347973272ORPHA1131675464147440
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0000252HP:0000252Microcephaly0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000252HP:0000252Microcephaly0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM111606139605025
HP:0000252HP:0000252Microcephaly0ITGB6 CL E G H36942850ORPHA17606161147558
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994457193ORPHA12921913013601408
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17622817582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0000252HP:0000252Microcephaly0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM111736217602703
HP:0000252HP:0000252Microcephaly0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0000252HP:0000252Microcephaly0KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0000252HP:0000252Microcephaly0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM1943436263600681
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM13846267600877
HP:0000252HP:0000252Microcephaly0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM14397818865608167
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H74032322ORPHA18131112637300128
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000252HP:0000252Microcephaly0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA110894021136440
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H38322526ORPHA1701726388148760
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H99282512ORPHA1167719181611279
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H9928616258Meckel syndrome 12616258C4015701OMIM1167719181611279
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H5472836ORPHA1431059888601255
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM1431059888601255
HP:0000252HP:0000252Microcephaly0KIF1BP CL E G H2612866629ORPHA11023419609367
HP:0000252HP:0000252Microcephaly0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0000252HP:0000252Microcephaly0KIF1C CL E G H10749397946ORPHA1171976317603060
HP:0000252HP:0000252Microcephaly0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0000252HP:0000252Microcephaly0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0000252HP:0000252Microcephaly0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0000252HP:0000252Microcephaly0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0000252HP:0000252Microcephaly0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000252HP:0000252Microcephaly0KMT2D CL E G H80852322ORPHA171213507133602113
HP:0000252HP:0000252Microcephaly0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000252HP:0000252Microcephaly0KNL1 CL E G H570822512ORPHA1621624054609173
HP:0000252HP:0000252Microcephaly0KNL1 CL E G H57082604321Primary autosomal recessive microcephaly 4604321C1858516OMIM1621624054609173
HP:0000252HP:0000252Microcephaly0KYNU CL E G H8942617661VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2617661C4540014OMIM18416469605197
HP:0000252HP:0000252Microcephaly0L1CAM CL E G H38971497Congenital mixovirusORPHA12935196470308840
HP:0000252HP:0000252Microcephaly0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM12935196470308840
HP:0000252HP:0000252Microcephaly0L1CAM CL E G H3897303350Spastic paraplegia 1303350C0795953OMIM12935196470308840
HP:0000252HP:0000252Microcephaly0LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0000252HP:0000252Microcephaly0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000252HP:0000252Microcephaly0LARP7 CL E G H51574615071Alazami syndrome615071C3554439OMIM1116524912612026
HP:0000252HP:0000252Microcephaly0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0000252HP:0000252Microcephaly0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM1417225726300964
HP:0000252HP:0000252Microcephaly0LEMD3 CL E G H23592166119ORPHA13413828887607844
HP:0000252HP:0000252Microcephaly0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000252HP:0000252Microcephaly0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0000252HP:0000252Microcephaly0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0000252HP:0000252Microcephaly0LIG4 CL E G H3981235ORPHA1403176601601837
HP:0000252HP:0000252Microcephaly0LIG4 CL E G H398199812ORPHA1403176601601837
HP:0000252HP:0000252Microcephaly0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000252HP:0000252Microcephaly0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12214116697603506
HP:0000252HP:0000252Microcephaly0LTC4S CL E G H4056614037Leukotriene c4 synthase deficiency614037C3279662OMIM16466719246530
HP:0000252HP:0000252Microcephaly0MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0000252HP:0000252Microcephaly0MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11546764604094
HP:0000252HP:0000252Microcephaly0MAPK1 CL E G H5594261330ORPHA131126871176948
HP:0000252HP:0000252Microcephaly0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0000252HP:0000252Microcephaly0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0000252HP:0000252Microcephaly0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000252HP:0000252Microcephaly0MBTPS2 CL E G H5136085284ORPHA12620715455300294
HP:0000252HP:0000252Microcephaly0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0000252HP:0000252Microcephaly0MCM4 CL E G H4173609981Natural killer cell and glucocorticoid deficiency with DNA repair defect609981C1864947OMIM151716947602638
HP:0000252HP:0000252Microcephaly0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM13622813356605248
HP:0000252HP:0000252Microcephaly0MCPH1 CL E G H796482512ORPHA1354036954607117
HP:0000252HP:0000252Microcephaly0MCPH1 CL E G H79648251200Primary autosomal recessive microcephaly 1251200C1855081OMIM1354036954607117
HP:0000252HP:0000252Microcephaly0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0000252HP:0000252Microcephaly0MECP2 CL E G H4204778ORPHA1105014426990300005
HP:0000252HP:0000252Microcephaly0MECP2 CL E G H42043095ORPHA1105014426990300005
HP:0000252HP:0000252Microcephaly0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0000252HP:0000252Microcephaly0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0000252HP:0000252Microcephaly0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000252HP:0000252Microcephaly0MEIS2 CL E G H4212261190ORPHA123577001601740
HP:0000252HP:0000252Microcephaly0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0000252HP:0000252Microcephaly0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0000252HP:0000252Microcephaly0MFSD2A CL E G H848792512ORPHA163325897614397
HP:0000252HP:0000252Microcephaly0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000252HP:0000252Microcephaly0MIR17HG CL E G H407975614326Feingold syndrome 2614326C3280489OMIM197223564609415
HP:0000252HP:0000252Microcephaly0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000252HP:0000252Microcephaly0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1523347121609883
HP:0000252HP:0000252Microcephaly0MMACHC CL E G H2597479282ORPHA19527424525609831
HP:0000252HP:0000252Microcephaly0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0000252HP:0000252Microcephaly0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0000252HP:0000252Microcephaly0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0000252HP:0000252Microcephaly0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0000252HP:0000252Microcephaly0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0000252HP:0000252Microcephaly0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0000252HP:0000252Microcephaly0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM144810545607545
HP:0000252HP:0000252Microcephaly0MTHFR CL E G H4524236250Homocysteinemia due to MTHFR deficiency236250C1856058OMIM11332617436607093
HP:0000252HP:0000252Microcephaly0MVK CL E G H459829ORPHA11832777530251170
HP:0000252HP:0000252Microcephaly0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000252HP:0000252Microcephaly0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000252HP:0000252Microcephaly0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0000252HP:0000252Microcephaly0MYMK CL E G H3898271358ORPHA175733778615345
HP:0000252HP:0000252Microcephaly0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0000252HP:0000252Microcephaly0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM1613818150607295
HP:0000252HP:0000252Microcephaly0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0000252HP:0000252Microcephaly0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000252HP:0000252Microcephaly0NAA10 CL E G H8260300855N-terminal acetyltransferase deficiency300855C3275447OMIM11029618704300013
HP:0000252HP:0000252Microcephaly0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0000252HP:0000252Microcephaly0NADK2 CL E G H133686431361ORPHA137026404615787
HP:0000252HP:0000252Microcephaly0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM137026404615787
HP:0000252HP:0000252Microcephaly0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0000252HP:0000252Microcephaly0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000252HP:0000252Microcephaly0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM1149626274612803
HP:0000252HP:0000252Microcephaly0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0000252HP:0000252Microcephaly0NBN CL E G H4683647ORPHA114820457652602667
HP:0000252HP:0000252Microcephaly0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0000252HP:0000252Microcephaly0NCAPD3 CL E G H233102512ORPHA1512128952609276
HP:0000252HP:0000252Microcephaly0NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM120116117619609449
HP:0000252HP:0000252Microcephaly0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM120116117619609449
HP:0000252HP:0000252Microcephaly0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0000252HP:0000252Microcephaly0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0000252HP:0000252Microcephaly0NF1 CL E G H4763139474ORPHA1301164917765613113
HP:0000252HP:0000252Microcephaly0NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0000252HP:0000252Microcephaly0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM139214377606470
HP:0000252HP:0000252Microcephaly0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0000252HP:0000252Microcephaly0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000252HP:0000252Microcephaly0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000252HP:0000252Microcephaly0NODAL CL E G H4838280200ORPHA1251017865601265
HP:0000252HP:0000252Microcephaly0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM116014378606471
HP:0000252HP:0000252Microcephaly0NSD1 CL E G H64324228415ORPHA152589614234606681
HP:0000252HP:0000252Microcephaly0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000252HP:0000252Microcephaly0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0000252HP:0000252Microcephaly0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0000252HP:0000252Microcephaly0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0000252HP:0000252Microcephaly0NSUN2 CL E G H54888235ORPHA1726025994610916
HP:0000252HP:0000252Microcephaly0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM1726025994610916
HP:0000252HP:0000252Microcephaly0NTNG1 CL E G H228543095ORPHA143023319608818
HP:0000252HP:0000252Microcephaly0NUP107 CL E G H571222065ORPHA1124029914607617
HP:0000252HP:0000252Microcephaly0NUS1 CL E G H116150617082CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa617082C4310727OMIM1225721042610463
HP:0000252HP:0000252Microcephaly0OCLN CL E G H1005066581229ORPHA120618104602876
HP:0000252HP:0000252Microcephaly0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0000252HP:0000252Microcephaly0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0000252HP:0000252Microcephaly0ORC1 CL E G H49982554ORPHA1121038487601902
HP:0000252HP:0000252Microcephaly0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0000252HP:0000252Microcephaly0ORC4 CL E G H50002554ORPHA16878490603056
HP:0000252HP:0000252Microcephaly0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16878490603056
HP:0000252HP:0000252Microcephaly0ORC6 CL E G H235942554ORPHA169017151607213
HP:0000252HP:0000252Microcephaly0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000252HP:0000252Microcephaly0OSGEP CL E G H556442065ORPHA1174618028610107
HP:0000252HP:0000252Microcephaly0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1912921652607649
HP:0000252HP:0000252Microcephaly0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0000252HP:0000252Microcephaly0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0000252HP:0000252Microcephaly0PAH CL E G H505379254ORPHA19809208582612349
HP:0000252HP:0000252Microcephaly0PAH CL E G H50532209Exsudative retinopathy familial, autosomal recessiveORPHA19809208582612349
HP:0000252HP:0000252Microcephaly0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM19809208582612349
HP:0000252HP:0000252Microcephaly0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0000252HP:0000252Microcephaly0PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0000252HP:0000252Microcephaly0PALB2 CL E G H79728610832Fanconi anemia, complementation group N610832C1835817OMIM1417350326144610355
HP:0000252HP:0000252Microcephaly0PARN CL E G H50733322ORPHA1291668609604212
HP:0000252HP:0000252Microcephaly0PARN CL E G H5073616353Dyskeratosis congenita, autosomal recessive 6616353C4225356OMIM1291668609604212
HP:0000252HP:0000252Microcephaly0PAX3 CL E G H5077896ORPHA11531818617606597
HP:0000252HP:0000252Microcephaly0PAX3 CL E G H5077148820Klein-Waardenberg's syndrome148820C0342680OMIM11531818617606597
HP:0000252HP:0000252Microcephaly0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0000252HP:0000252Microcephaly0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM16568657605622
HP:0000252HP:0000252Microcephaly0PCNT CL E G H5116808Baker Vinters syndromeORPHA18888516068605925
HP:0000252HP:0000252Microcephaly0PCNT CL E G H51162637HemimegalencephalyORPHA18888516068605925
HP:0000252HP:0000252Microcephaly0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000252HP:0000252Microcephaly0PDGFB CL E G H51551980ORPHA123448800190040
HP:0000252HP:0000252Microcephaly0PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0000252HP:0000252Microcephaly0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11934088806300502
HP:0000252HP:0000252Microcephaly0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12218621350608769
HP:0000252HP:0000252Microcephaly0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0000252HP:0000252Microcephaly0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0000252HP:0000252Microcephaly0PEX11B CL E G H8799912ORPHA182478853603867
HP:0000252HP:0000252Microcephaly0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0000252HP:0000252Microcephaly0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0000252HP:0000252Microcephaly0PEX14 CL E G H5195912ORPHA151768856601791
HP:0000252HP:0000252Microcephaly0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0000252HP:0000252Microcephaly0PEX19 CL E G H5824912ORPHA141339713600279
HP:0000252HP:0000252Microcephaly0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0000252HP:0000252Microcephaly0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0000252HP:0000252Microcephaly0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0000252HP:0000252Microcephaly0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0000252HP:0000252Microcephaly0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0000252HP:0000252Microcephaly0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1142809719600414
HP:0000252HP:0000252Microcephaly0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0000252HP:0000252Microcephaly0PEX7 CL E G H5191215100Rhizomelic chondrodysplasia punctata type 1215100C1859133OMIM1531878860601757
HP:0000252HP:0000252Microcephaly0PGAP1 CL E G H80055615802Mental retardation, autosomal recessive 42615802C4014343OMIM11210525712611655
HP:0000252HP:0000252Microcephaly0PHC1 CL E G H19112512ORPHA11553182602978
HP:0000252HP:0000252Microcephaly0PHC1 CL E G H1911615414Primary autosomal recessive microcephaly 11615414C3809431OMIM11553182602978
HP:0000252HP:0000252Microcephaly0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM12923518145300414
HP:0000252HP:0000252Microcephaly0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA1231458923606879
HP:0000252HP:0000252Microcephaly0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000252HP:0000252Microcephaly0PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0000252HP:0000252Microcephaly0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13232926270613629
HP:0000252HP:0000252Microcephaly0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0000252HP:0000252Microcephaly0PLAA CL E G H9373521426ORPHA13849043603873
HP:0000252HP:0000252Microcephaly0PLK4 CL E G H107332518ORPHA169411397605031
HP:0000252HP:0000252Microcephaly0PLK4 CL E G H10733808Baker Vinters syndromeORPHA169411397605031
HP:0000252HP:0000252Microcephaly0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000252HP:0000252Microcephaly0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523009086300401
HP:0000252HP:0000252Microcephaly0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0000252HP:0000252Microcephaly0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0000252HP:0000252Microcephaly0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000252HP:0000252Microcephaly0POLG CL E G H5428726ORPHA130011969179174763
HP:0000252HP:0000252Microcephaly0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0000252HP:0000252Microcephaly0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM18946119139606822
HP:0000252HP:0000252Microcephaly0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000252HP:0000252Microcephaly0POMT1 CL E G H1058586812ORPHA1965089202607423
HP:0000252HP:0000252Microcephaly0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM1965089202607423
HP:0000252HP:0000252Microcephaly0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM1965089202607423
HP:0000252HP:0000252Microcephaly0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000252HP:0000252Microcephaly0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000252HP:0000252Microcephaly0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000252HP:0000252Microcephaly0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000252HP:0000252Microcephaly0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000252HP:0000252Microcephaly0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000252HP:0000252Microcephaly0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM153414951613257
HP:0000252HP:0000252Microcephaly0PQBP1 CL E G H1008493947ORPHA1222289330300463
HP:0000252HP:0000252Microcephaly0PQBP1 CL E G H1008493946ORPHA1222289330300463
HP:0000252HP:0000252Microcephaly0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000252HP:0000252Microcephaly0PRDM16 CL E G H639761606ORPHA12167714000605557
HP:0000252HP:0000252Microcephaly0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0000252HP:0000252Microcephaly0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18659407605435
HP:0000252HP:0000252Microcephaly0PRKDC CL E G H5591615966Immunodeficiency 26 with or without neurologic abnormalities615966C4014833OMIM1115749413600899
HP:0000252HP:0000252Microcephaly0PRMT7 CL E G H54496617157Short stature, brachydactyly, intellectual developmental disability, and seizures617157C4310689OMIM1117325557610087
HP:0000252HP:0000252Microcephaly0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM1102713420617413
HP:0000252HP:0000252Microcephaly0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA11032319129610936
HP:0000252HP:0000252Microcephaly0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000252HP:0000252Microcephaly0PTCH1 CL E G H5727280200ORPHA152920319585601309
HP:0000252HP:0000252Microcephaly0PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000252HP:0000252Microcephaly0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM1112989689612719
HP:0000252HP:0000252Microcephaly0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM13212917042604819
HP:0000252HP:0000252Microcephaly0PUS1 CL E G H803242598Mitochondrial myopathy and sideroblastic anemiaCN220387ORPHA1916115508608109
HP:0000252HP:0000252Microcephaly0PUS1 CL E G H80324600462Myopathy, lactic acidosis, and sideroblastic anemia 1600462C1838103OMIM1916115508608109
HP:0000252HP:0000252Microcephaly0PUS3 CL E G H83480617051Mental retardation, autosomal recessive 55617051C4310745OMIM1111025461616283
HP:0000252HP:0000252Microcephaly0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM1411449721179035
HP:0000252HP:0000252Microcephaly0PYCR2 CL E G H299202512ORPHA1136330262616406
HP:0000252HP:0000252Microcephaly0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0000252HP:0000252Microcephaly0QDPR CL E G H5860226ORPHA1671259752612676
HP:0000252HP:0000252Microcephaly0QDPR CL E G H5860261630Dihydropteridine reductase deficiency261630C0268465OMIM1671259752612676
HP:0000252HP:0000252Microcephaly0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000252HP:0000252Microcephaly0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000252HP:0000252Microcephaly0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA16719317063602536
HP:0000252HP:0000252Microcephaly0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0000252HP:0000252Microcephaly0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000252HP:0000252Microcephaly0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA11629417168609275
HP:0000252HP:0000252Microcephaly0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000252HP:0000252Microcephaly0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000252HP:0000252Microcephaly0RAD21 CL E G H5885614701Cornelia de Lange syndrome 4614701C3553517OMIM1131499811606462
HP:0000252HP:0000252Microcephaly0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM19522069816604040
HP:0000252HP:0000252Microcephaly0RAD51 CL E G H588884ORPHA116369817179617
HP:0000252HP:0000252Microcephaly0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0000252HP:0000252Microcephaly0RAD51C CL E G H588984ORPHA113111309820602774
HP:0000252HP:0000252Microcephaly0RAP1A CL E G H59062322ORPHA12209855179520
HP:0000252HP:0000252Microcephaly0RAP1B CL E G H59082322ORPHA11199857179530
HP:0000252HP:0000252Microcephaly0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM1119870107820
HP:0000252HP:0000252Microcephaly0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA1111311959884614041
HP:0000252HP:0000252Microcephaly0RBBP8 CL E G H5932808Baker Vinters syndromeORPHA161089891604124
HP:0000252HP:0000252Microcephaly0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0000252HP:0000252Microcephaly0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM115021863612074
HP:0000252HP:0000252Microcephaly0RBPJ CL E G H3516614814Adams-Oliver syndrome 3614814C3553748OMIM110735724147183
HP:0000252HP:0000252Microcephaly0RELN CL E G H5649257320Lissencephaly 2257320C0796089OMIM16111119957600514
HP:0000252HP:0000252Microcephaly0REN CL E G H5972267430Renal dysplasia267430C3536714OMIM121599958179820
HP:0000252HP:0000252Microcephaly0RERE CL E G H4731606ORPHA1251619965605226
HP:0000252HP:0000252Microcephaly0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000252HP:0000252Microcephaly0RFT1 CL E G H91869244310ORPHA11317930220611908
HP:0000252HP:0000252Microcephaly0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0000252HP:0000252Microcephaly0RFWD3 CL E G H5515984ORPHA124925539614151
HP:0000252HP:0000252Microcephaly0RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0000252HP:0000252Microcephaly0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0000252HP:0000252Microcephaly0RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0000252HP:0000252Microcephaly0RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0000252HP:0000252Microcephaly0RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0000252HP:0000252Microcephaly0RNU4ATAC CL E G H1001516831824Devriendt Legius Fryns syndromeORPHA1245634016601428
HP:0000252HP:0000252Microcephaly0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000252HP:0000252Microcephaly0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000252HP:0000252Microcephaly0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000252HP:0000252Microcephaly0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000252HP:0000252Microcephaly0RPL10 CL E G H6134435938ORPHA1624210298312173
HP:0000252HP:0000252Microcephaly0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM11759610402603474
HP:0000252HP:0000252Microcephaly0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000252HP:0000252Microcephaly0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM117130910432300075
HP:0000252HP:0000252Microcephaly0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000252HP:0000252Microcephaly0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0000252HP:0000252Microcephaly0RTEL1 CL E G H517503322ORPHA15468415888608833
HP:0000252HP:0000252Microcephaly0RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0000252HP:0000252Microcephaly0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0000252HP:0000252Microcephaly0SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0000252HP:0000252Microcephaly0SASS6 CL E G H1637862512ORPHA134325403609321
HP:0000252HP:0000252Microcephaly0SASS6 CL E G H163786616402Primary autosomal recessive microcephaly 14616402C4225338OMIM134325403609321
HP:0000252HP:0000252Microcephaly0SATB2 CL E G H23314612313Chromosome 2q32-q33 deletion syndrome612313C2676739OMIM110627421637608148
HP:0000252HP:0000252Microcephaly0SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM11430310542603560
HP:0000252HP:0000252Microcephaly0SC5D CL E G H630946059ORPHA1618210547602286
HP:0000252HP:0000252Microcephaly0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0000252HP:0000252Microcephaly0SEMA5A CL E G H9037281Ramer Ladda syndromeORPHA1817410736609297
HP:0000252HP:0000252Microcephaly0SET CL E G H6418618106MENTAL RETARDATION, AUTOSOMAL DOMINANT 58618106CN253713OMIM177210760600960
HP:0000252HP:0000252Microcephaly0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000252HP:0000252Microcephaly0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000252HP:0000252Microcephaly0SHH CL E G H6469280200ORPHA122121010848600725
HP:0000252HP:0000252Microcephaly0SHROOM4 CL E G H57477300434Stocco dos Santos syndrome300434C1845530OMIM1922829215300579
HP:0000252HP:0000252Microcephaly0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14916724624608005
HP:0000252HP:0000252Microcephaly0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000252HP:0000252Microcephaly0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000252HP:0000252Microcephaly0SIX3 CL E G H6496280200ORPHA1919010889603714
HP:0000252HP:0000252Microcephaly0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1919010889603714
HP:0000252HP:0000252Microcephaly0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1115910892606326
HP:0000252HP:0000252Microcephaly0SKI CL E G H64971606ORPHA12450210896164780
HP:0000252HP:0000252Microcephaly0SLC12A6 CL E G H99901496Congenital mitral stenosisORPHA12038710914604878
HP:0000252HP:0000252Microcephaly0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM12131223089608305
HP:0000252HP:0000252Microcephaly0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18825710923300095
HP:0000252HP:0000252Microcephaly0SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0000252HP:0000252Microcephaly0SLC25A19 CL E G H6038699742ORPHA189314409606521
HP:0000252HP:0000252Microcephaly0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128151611005138140
HP:0000252HP:0000252Microcephaly0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM157011021605634
HP:0000252HP:0000252Microcephaly0SLC35A2 CL E G H7355300896CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm300896C3806688OMIM11827311022314375
HP:0000252HP:0000252Microcephaly0SLC35A3 CL E G H23443615553Arthrogryposis, mental retardation, and seizures615553C3809910OMIM157911023605632
HP:0000252HP:0000252Microcephaly0SLC35C1 CL E G H55343266265Congenital disorder of glycosylation type 2C266265C0398739OMIM1716320197605881
HP:0000252HP:0000252Microcephaly0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000252HP:0000252Microcephaly0SLC9A6 CL E G H1047985278ORPHA12835111079300231
HP:0000252HP:0000252Microcephaly0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM12835111079300231
HP:0000252HP:0000252Microcephaly0SLX4 CL E G H8446484ORPHA17281823845613278
HP:0000252HP:0000252Microcephaly0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000252HP:0000252Microcephaly0SMARCA2 CL E G H65953051ORPHA17844511098600014
HP:0000252HP:0000252Microcephaly0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM17844511098600014
HP:0000252HP:0000252Microcephaly0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000252HP:0000252Microcephaly0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000252HP:0000252Microcephaly0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000252HP:0000252Microcephaly0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000252HP:0000252Microcephaly0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000252HP:0000252Microcephaly0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM110048411111300040
HP:0000252HP:0000252Microcephaly0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000252HP:0000252Microcephaly0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000252HP:0000252Microcephaly0SNAP29 CL E G H934266631ORPHA11352711133604202
HP:0000252HP:0000252Microcephaly0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM174311153182282
HP:0000252HP:0000252Microcephaly0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000252HP:0000252Microcephaly0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000252HP:0000252Microcephaly0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM110510511195184429
HP:0000252HP:0000252Microcephaly0SP110 CL E G H3431235550Hepatic venoocclusive disease with immunodeficiency235550C1856128OMIM1121875401604457
HP:0000252HP:0000252Microcephaly0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM12828618119613940
HP:0000252HP:0000252Microcephaly0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0000252HP:0000252Microcephaly0SSR4 CL E G H6748370927ORPHA1725011326300090
HP:0000252HP:0000252Microcephaly0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1725011326300090
HP:0000252HP:0000252Microcephaly0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0000252HP:0000252Microcephaly0STIL CL E G H64912512ORPHA11818110879181590
HP:0000252HP:0000252Microcephaly0STIL CL E G H6491612703Primary autosomal recessive microcephaly 7612703C2675187OMIM11818110879181590
HP:0000252HP:0000252Microcephaly0STT3A CL E G H3703370921ORPHA131066172601134
HP:0000252HP:0000252Microcephaly0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM131066172601134
HP:0000252HP:0000252Microcephaly0STT3B CL E G H201595370924ORPHA156630611608605
HP:0000252HP:0000252Microcephaly0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM156630611608605
HP:0000252HP:0000252Microcephaly0STXBP1 CL E G H68123095ORPHA119553811444602926
HP:0000252HP:0000252Microcephaly0SUCLA2 CL E G H88031933ORPHA12918911448603921
HP:0000252HP:0000252Microcephaly0SUFU CL E G H51684280200ORPHA14753316466607035
HP:0000252HP:0000252Microcephaly0TAF13 CL E G H68842512ORPHA142811546600774
HP:0000252HP:0000252Microcephaly0TAF13 CL E G H6884617432Mental retardation, autosomal recessive 60617432C4479476OMIM142811546600774
HP:0000252HP:0000252Microcephaly0TAF6 CL E G H6878617126Alazami-Yuan syndrome617126C4310702OMIM155311540602955
HP:0000252HP:0000252Microcephaly0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000252HP:0000252Microcephaly0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000252HP:0000252Microcephaly0TBC1D24 CL E G H57465352596ORPHA15656429203613577
HP:0000252HP:0000252Microcephaly0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM15656429203613577
HP:0000252HP:0000252Microcephaly0TBCE CL E G H690593324ORPHA1816111582604934
HP:0000252HP:0000252Microcephaly0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0000252HP:0000252Microcephaly0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA1816111582604934
HP:0000252HP:0000252Microcephaly0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000252HP:0000252Microcephaly0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000252HP:0000252Microcephaly0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM18255311592602054
HP:0000252HP:0000252Microcephaly0TBX4 CL E G H9496261279ORPHA15913511603601719
HP:0000252HP:0000252Microcephaly0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000252HP:0000252Microcephaly0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000252HP:0000252Microcephaly0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000252HP:0000252Microcephaly0TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM11520325774613846
HP:0000252HP:0000252Microcephaly0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000252HP:0000252Microcephaly0TDGF1 CL E G H6997280200ORPHA161411701187395
HP:0000252HP:0000252Microcephaly0TECPR2 CL E G H9895320385ORPHA1831019957615000
HP:0000252HP:0000252Microcephaly0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM1831019957615000
HP:0000252HP:0000252Microcephaly0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM1811529099611140
HP:0000252HP:0000252Microcephaly0TERT CL E G H70153322ORPHA1173115911730187270
HP:0000252HP:0000252Microcephaly0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000252HP:0000252Microcephaly0TGIF1 CL E G H7050280200ORPHA12817011776602630
HP:0000252HP:0000252Microcephaly0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000252HP:0000252Microcephaly0TINF2 CL E G H262773322ORPHA14216511824604319
HP:0000252HP:0000252Microcephaly0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0000252HP:0000252Microcephaly0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000252HP:0000252Microcephaly0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000252HP:0000252Microcephaly0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000252HP:0000252Microcephaly0TMEM260 CL E G H54916617478Structural heart defects and renal anomalies syndrome617478C4479549OMIM133420185617449
HP:0000252HP:0000252Microcephaly0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000252HP:0000252Microcephaly0TMEM70 CL E G H549681194ORPHA11815126050612418
HP:0000252HP:0000252Microcephaly0TP53RK CL E G H1128582065ORPHA152616197608679
HP:0000252HP:0000252Microcephaly0TPRKB CL E G H51002