Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skull size (HP:0000240)help
Parent Node:
expand
Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
Parent Node:
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Decreased head circumference (HP:0040195)help
..Starting node
..expand
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 achalasia231550C0271742OMIM116213666605378
HP:0000252HP:0000252Microcephaly0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0000252HP:0000252Microcephaly0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0000252HP:0000252Microcephaly0ABCC8 CL E G H6833276575ORPHA1112559600509
HP:0000252HP:0000252Microcephaly0ABCC8 CL E G H6833276575ORPHA1125359600509
HP:0000252HP:0000252Microcephaly0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM127591600301
HP:0000252HP:0000252Microcephaly0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM129091600301
HP:0000252HP:0000252Microcephaly0ACD CL E G H650573322ORPHA122925070609377
HP:0000252HP:0000252Microcephaly0ACD CL E G H650573322ORPHA132125070609377
HP:0000252HP:0000252Microcephaly0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM122925070609377
HP:0000252HP:0000252Microcephaly0ACD CL E G H65057616553Dyskeratosis congenita, autosomal dominant 6616553C4225284OMIM132125070609377
HP:0000252HP:0000252Microcephaly0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM12742707106180
HP:0000252HP:0000252Microcephaly0ACE CL E G H1636267430Renal dysplasia267430C3536714OMIM12952707106180
HP:0000252HP:0000252Microcephaly0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000252HP:0000252Microcephaly0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000252HP:0000252Microcephaly0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000252HP:0000252Microcephaly0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000252HP:0000252Microcephaly0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000252HP:0000252Microcephaly0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000252HP:0000252Microcephaly0ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000252HP:0000252Microcephaly0ADAR CL E G H10351ORPHA1471225146920
HP:0000252HP:0000252Microcephaly0ADAR CL E G H10351ORPHA1654225146920
HP:0000252HP:0000252Microcephaly0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM152245601568
HP:0000252HP:0000252Microcephaly0ADD3 CL E G H120617008Cerebral palsy, spastic quadriplegic, 3617008C4310767OMIM188245601568
HP:0000252HP:0000252Microcephaly0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1368291608222
HP:0000252HP:0000252Microcephaly0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA1582291608222
HP:0000252HP:0000252Microcephaly0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1330318613228
HP:0000252HP:0000252Microcephaly0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1355318613228
HP:0000252HP:0000252Microcephaly0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1143333106150
HP:0000252HP:0000252Microcephaly0AGT CL E G H183267430Renal dysplasia267430C3536714OMIM1153333106150
HP:0000252HP:0000252Microcephaly0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM188336106165
HP:0000252HP:0000252Microcephaly0AGTR1 CL E G H185267430Renal dysplasia267430C3536714OMIM1103336106165
HP:0000252HP:0000252Microcephaly0AHSG CL E G H1972850ORPHA161349138680
HP:0000252HP:0000252Microcephaly0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM15210648603605
HP:0000252HP:0000252Microcephaly0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM16610648603605
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13469722138250
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13929722138250
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0000252HP:0000252Microcephaly0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11337179603178
HP:0000252HP:0000252Microcephaly0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM11467179603178
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H5605279327ORPHA126018294605907
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H5605279327ORPHA139118294605907
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM126018294605907
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM139118294605907
HP:0000252HP:0000252Microcephaly0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM163330881300776
HP:0000252HP:0000252Microcephaly0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM171030881300776
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0000252HP:0000252Microcephaly0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1245450605420
HP:0000252HP:0000252Microcephaly0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1246450605420
HP:0000252HP:0000252Microcephaly0ANK1 CL E G H286251066ORPHA1567492612641
HP:0000252HP:0000252Microcephaly0ANK1 CL E G H286251066ORPHA1604492612641
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H231412512ORPHA118429101616062
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H231412512ORPHA118929101616062
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118429101616062
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118929101616062
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H291232332ORPHA1110121316611192
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H291232332ORPHA1118421316611192
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1110121316611192
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H29123148050KBG syndrome148050C0220687OMIM1118421316611192
HP:0000252HP:0000252Microcephaly0AP1S2 CL E G H890585329ORPHA1216560300629
HP:0000252HP:0000252Microcephaly0AP1S2 CL E G H890585329ORPHA1219560300629
HP:0000252HP:0000252Microcephaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0000252HP:0000252Microcephaly0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0000252HP:0000252Microcephaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1226568607246
HP:0000252HP:0000252Microcephaly0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1394568607246
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0000252HP:0000252Microcephaly0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000252HP:0000252Microcephaly0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000252HP:0000252Microcephaly0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM117429216610911
HP:0000252HP:0000252Microcephaly0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM121029216610911
HP:0000252HP:0000252Microcephaly0ARID1A CL E G H82891465ORPHA138311110603024
HP:0000252HP:0000252Microcephaly0ARID1A CL E G H82891465ORPHA144211110603024
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H574921465ORPHA186618040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H574921465ORPHA195818040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000252HP:0000252Microcephaly0ARID2 CL E G H1965281465ORPHA117918037609539
HP:0000252HP:0000252Microcephaly0ARID2 CL E G H1965281465ORPHA118618037609539
HP:0000252HP:0000252Microcephaly0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302452ORPHA156518060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302452ORPHA162418060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H1703022508ORPHA156518060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H1703022508ORPHA162418060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM156518060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM162418060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000252HP:0000252Microcephaly0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000252HP:0000252Microcephaly0ASPM CL E G H2592662512ORPHA192019048605481
HP:0000252HP:0000252Microcephaly0ASPM CL E G H2592662512ORPHA1110319048605481
HP:0000252HP:0000252Microcephaly0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM192019048605481
HP:0000252HP:0000252Microcephaly0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM1110319048605481
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H17102397297ORPHA129818318612990
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H17102397297ORPHA138818318612990
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000252HP:0000252Microcephaly0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0000252HP:0000252Microcephaly0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0000252HP:0000252Microcephaly0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0000252HP:0000252Microcephaly0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538565ORPHA1897869300011
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538565ORPHA11003869300011
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0000252HP:0000252Microcephaly0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0000252HP:0000252Microcephaly0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0000252HP:0000252Microcephaly0ATR CL E G H545808Baker Vinters syndromeORPHA1755882601215
HP:0000252HP:0000252Microcephaly0ATR CL E G H545808Baker Vinters syndromeORPHA11007882601215
HP:0000252HP:0000252Microcephaly0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM1755882601215
HP:0000252HP:0000252Microcephaly0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM11007882601215
HP:0000252HP:0000252Microcephaly0ATRIP CL E G H84126808Baker Vinters syndromeORPHA123933499606605
HP:0000252HP:0000252Microcephaly0ATRIP CL E G H84126808Baker Vinters syndromeORPHA133333499606605
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546847ORPHA11103886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546847ORPHA11217886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11103886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM11217886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0000252HP:0000252Microcephaly0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0000252HP:0000252Microcephaly0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0000252HP:0000252Microcephaly0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000252HP:0000252Microcephaly0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000252HP:0000252Microcephaly0B9D1 CL E G H27077564ORPHA119624123614144
HP:0000252HP:0000252Microcephaly0B9D1 CL E G H27077564ORPHA123024123614144
HP:0000252HP:0000252Microcephaly0B9D2 CL E G H80776564ORPHA15028636611951
HP:0000252HP:0000252Microcephaly0B9D2 CL E G H80776564ORPHA15828636611951
HP:0000252HP:0000252Microcephaly0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000252HP:0000252Microcephaly0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134369939ORPHA128216695300398
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134369939ORPHA130116695300398
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM128216695300398
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130116695300398
HP:0000252HP:0000252Microcephaly0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112513221606557
HP:0000252HP:0000252Microcephaly0BCL11A CL E G H53335617101Intellectual developmental disorder with persistence of fetal hemoglobin617101C4310833OMIM112913221606557
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000252HP:0000252Microcephaly0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000252HP:0000252Microcephaly0BCR CL E G H613261330ORPHA12141014151410
HP:0000252HP:0000252Microcephaly0BCR CL E G H613261330ORPHA12171014151410
HP:0000252HP:0000252Microcephaly0BDNF CL E G H627893ORPHA1561033113505
HP:0000252HP:0000252Microcephaly0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0000252HP:0000252Microcephaly0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0000252HP:0000252Microcephaly0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0000252HP:0000252Microcephaly0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0000252HP:0000252Microcephaly0BRCA1 CL E G H67284ORPHA1122071100113705
HP:0000252HP:0000252Microcephaly0BRCA1 CL E G H67284ORPHA1125861100113705
HP:0000252HP:0000252Microcephaly0BRCA2 CL E G H67584ORPHA1139121101600185
HP:0000252HP:0000252Microcephaly0BRCA2 CL E G H67584ORPHA1147421101600185
HP:0000252HP:0000252Microcephaly0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM114211551604902
HP:0000252HP:0000252Microcephaly0BRF1 CL E G H2972616202Cerebellofaciodental syndrome616202C4015495OMIM115811551604902
HP:0000252HP:0000252Microcephaly0BRIP1 CL E G H8399084ORPHA1346420473605882
HP:0000252HP:0000252Microcephaly0BRIP1 CL E G H8399084ORPHA1377820473605882
HP:0000252HP:0000252Microcephaly0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000252HP:0000252Microcephaly0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM15111149602860
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM16171149602860
HP:0000252HP:0000252Microcephaly0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000252HP:0000252Microcephaly0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM123824564615944
HP:0000252HP:0000252Microcephaly0C2CD3 CL E G H26005615948Orofaciodigital syndrome xiv615948C4014780OMIM135524564615944
HP:0000252HP:0000252Microcephaly0CASK CL E G H8573163937ORPHA15831497300172
HP:0000252HP:0000252Microcephaly0CASK CL E G H8573163937ORPHA16331497300172
HP:0000252HP:0000252Microcephaly0CC2D2A CL E G H57545564ORPHA188129253612013
HP:0000252HP:0000252Microcephaly0CC2D2A CL E G H57545564ORPHA1106429253612013
HP:0000252HP:0000252Microcephaly0CCDC47 CL E G H57003618268618268618268OMIM123248560
HP:0000252HP:0000252Microcephaly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM15616892606037
HP:0000252HP:0000252Microcephaly0CD96 CL E G H10225211750C syndrome211750C0796095OMIM16216892606037
HP:0000252HP:0000252Microcephaly0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA15616892606037
HP:0000252HP:0000252Microcephaly0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA16216892606037
HP:0000252HP:0000252Microcephaly0CDC45 CL E G H83182554ORPHA15001739603465
HP:0000252HP:0000252Microcephaly0CDC45 CL E G H83182554ORPHA15421739603465
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H9902554ORPHA1711744602627
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H9902554ORPHA1831744602627
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM1711744602627
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM1831744602627
HP:0000252HP:0000252Microcephaly0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM15614628609937
HP:0000252HP:0000252Microcephaly0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM110314628609937
HP:0000252HP:0000252Microcephaly0CDH11 CL E G H10091299ORPHA1521750600023
HP:0000252HP:0000252Microcephaly0CDH11 CL E G H10091299ORPHA1591750600023
HP:0000252HP:0000252Microcephaly0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1771774123831
HP:0000252HP:0000252Microcephaly0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1831774123831
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H557552512ORPHA145418672608201
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H557552512ORPHA146318672608201
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM145418672608201
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H55755604804Primary autosomal recessive microcephaly 3604804C1858108OMIM146318672608201
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H10212512ORPHA1451777603368
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H1021616080Primary autosomal recessive microcephaly 12616080C4015156OMIM1451777603368
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H67923095ORPHA1127011411300203
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H67923095ORPHA1139911411300203
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937280200ORPHA148917104608707
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937280200ORPHA151817104608707
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM148917104608707
HP:0000252HP:0000252Microcephaly0CDON CL E G H50937614226Holoprosencephaly 11614226C3280215OMIM151817104608707
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H816202554ORPHA121624576605525
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H816202554ORPHA129324576605525
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM121624576605525
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM129324576605525
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062808Baker Vinters syndromeORPHA12521856117143
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062808Baker Vinters syndromeORPHA12621856117143
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM12521856117143
HP:0000252HP:0000252Microcephaly0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM12621856117143
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H558352512ORPHA134717272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H558352512ORPHA139917272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835808Baker Vinters syndromeORPHA134717272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835808Baker Vinters syndromeORPHA139917272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM134717272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM139917272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM134717272609279
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H55835613676Seckel syndrome 4613676C3888212OMIM139917272609279
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H96622512ORPHA117629086611423
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H96622512ORPHA124529086611423
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM117629086611423
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H9662614673Primary autosomal recessive microcephaly 8614673C3553414OMIM124529086611423
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H229952512ORPHA133429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H229952512ORPHA140429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995808Baker Vinters syndromeORPHA133429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995808Baker Vinters syndromeORPHA140429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995614852Primary autosomal recessive microcephaly 9614852C3553886OMIM133429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995614852Primary autosomal recessive microcephaly 9614852C3553886OMIM140429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM133429298613529
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM140429298613529
HP:0000252HP:0000252Microcephaly0CEP290 CL E G H80184564ORPHA1153529021610142
HP:0000252HP:0000252Microcephaly0CEP290 CL E G H80184564ORPHA1190229021610142
HP:0000252HP:0000252Microcephaly0CEP55 CL E G H55165564ORPHA1401161610000
HP:0000252HP:0000252Microcephaly0CEP55 CL E G H55165564ORPHA1441161610000
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM121230794607951
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H9702614114Mosaic variegated aneuploidy syndrome 2614114C3279843OMIM127530794607951
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H802542512ORPHA116725815614724
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H802542512ORPHA120025815614724
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM116725815614724
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H80254614728Seckel syndrome 6614728C3553582OMIM120025815614724
HP:0000252HP:0000252Microcephaly0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0000252HP:0000252Microcephaly0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0000252HP:0000252Microcephaly0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0000252HP:0000252Microcephaly0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0000252HP:0000252Microcephaly0CHRNG CL E G H11462990ORPHA12061967100730
HP:0000252HP:0000252Microcephaly0CHRNG CL E G H11462990ORPHA12121967100730
HP:0000252HP:0000252Microcephaly0CHUK CL E G H1147613630Cocoon syndrome613630C3150891OMIM1651974600664
HP:0000252HP:0000252Microcephaly0CHUK CL E G H1147613630Cocoon syndrome613630C3150891OMIM1911974600664
HP:0000252HP:0000252Microcephaly0CIT CL E G H111132512ORPHA13191985605629
HP:0000252HP:0000252Microcephaly0CIT CL E G H111132512ORPHA13291985605629
HP:0000252HP:0000252Microcephaly0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13191985605629
HP:0000252HP:0000252Microcephaly0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13291985605629
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0000252HP:0000252Microcephaly0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0000252HP:0000252Microcephaly0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0000252HP:0000252Microcephaly0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0000252HP:0000252Microcephaly0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0000252HP:0000252Microcephaly0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1176103607803
HP:0000252HP:0000252Microcephaly0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM1191103607803
HP:0000252HP:0000252Microcephaly0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0000252HP:0000252Microcephaly0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583985172ORPHA122118620606976
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583985172ORPHA124718620606976
HP:0000252HP:0000252Microcephaly0COG4 CL E G H25839263501ORPHA122118620606976
HP:0000252HP:0000252Microcephaly0COG4 CL E G H25839263501ORPHA124718620606976
HP:0000252HP:0000252Microcephaly0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM128118621606977
HP:0000252HP:0000252Microcephaly0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM129718621606977
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762512ORPHA1512232606990
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762512ORPHA1632232606990
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1512232606990
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H9276617800MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE617800C4540488OMIM1632232606990
HP:0000252HP:0000252Microcephaly0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12162263603646
HP:0000252HP:0000252Microcephaly0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12332263603646
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11712291300885
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM11752291300885
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11712291300885
HP:0000252HP:0000252Microcephaly0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM11752291300885
HP:0000252HP:0000252Microcephaly0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000252HP:0000252Microcephaly0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000252HP:0000252Microcephaly0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM15052330600650
HP:0000252HP:0000252Microcephaly0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM16182330600650
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000252HP:0000252Microcephaly0CRKL CL E G H1399261330ORPHA13982363602007
HP:0000252HP:0000252Microcephaly0CRKL CL E G H1399261330ORPHA14062363602007
HP:0000252HP:0000252Microcephaly0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0000252HP:0000252Microcephaly0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0000252HP:0000252Microcephaly0CSPP1 CL E G H79848564ORPHA147626193611654
HP:0000252HP:0000252Microcephaly0CSPP1 CL E G H79848564ORPHA168726193611654
HP:0000252HP:0000252Microcephaly0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000252HP:0000252Microcephaly0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000252HP:0000252Microcephaly0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM119013723604167
HP:0000252HP:0000252Microcephaly0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM120113723604167
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM12692514116806
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM13642514116806
HP:0000252HP:0000252Microcephaly0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13042516604275
HP:0000252HP:0000252Microcephaly0CTNND2 CL E G H1501281Ramer Ladda syndromeORPHA13082516604275
HP:0000252HP:0000252Microcephaly0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0000252HP:0000252Microcephaly0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0000252HP:0000252Microcephaly0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM112828005617057
HP:0000252HP:0000252Microcephaly0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM114228005617057
HP:0000252HP:0000252Microcephaly0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11342873613213
HP:0000252HP:0000252Microcephaly0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM11442873613213
HP:0000252HP:0000252Microcephaly0CYP26C1 CL E G H340665398189ORPHA13320577608428
HP:0000252HP:0000252Microcephaly0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0000252HP:0000252Microcephaly0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0000252HP:0000252Microcephaly0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11232736601150
HP:0000252HP:0000252Microcephaly0DDX11 CL E G H1663613398Warsaw breakage syndrome613398C3150658OMIM11262736601150
HP:0000252HP:0000252Microcephaly0DDX3X CL E G H1654457260ORPHA14612745300160
HP:0000252HP:0000252Microcephaly0DDX3X CL E G H1654457260ORPHA14962745300160
HP:0000252HP:0000252Microcephaly0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000252HP:0000252Microcephaly0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000252HP:0000252Microcephaly0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000252HP:0000252Microcephaly0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000252HP:0000252Microcephaly0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000252HP:0000252Microcephaly0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000252HP:0000252Microcephaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0000252HP:0000252Microcephaly0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0000252HP:0000252Microcephaly0DHCR24 CL E G H171835107ORPHA11802859606418
HP:0000252HP:0000252Microcephaly0DHCR24 CL E G H171835107ORPHA11982859606418
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000252HP:0000252Microcephaly0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM121823537614984
HP:0000252HP:0000252Microcephaly0DHTKD1 CL E G H555262047502-aminoadipic 2-oxoadipic aciduria204750C1859817OMIM133723537614984
HP:0000252HP:0000252Microcephaly0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM15542876602121
HP:0000252HP:0000252Microcephaly0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM17582876602121
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H84976280200ORPHA114519711607502
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H84976280200ORPHA117819711607502
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H17363322ORPHA13962890300126
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H17363322ORPHA14262890300126
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000252HP:0000252Microcephaly0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0000252HP:0000252Microcephaly0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0000252HP:0000252Microcephaly0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0000252HP:0000252Microcephaly0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H28514280200ORPHA11772908606582
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H28514280200ORPHA12062908606582
HP:0000252HP:0000252Microcephaly0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12232939601810
HP:0000252HP:0000252Microcephaly0DNA2 CL E G H1763615807Seckel syndrome 8615807C3891452OMIM12902939601810
HP:0000252HP:0000252Microcephaly0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM12632973603850
HP:0000252HP:0000252Microcephaly0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM13322973603850
HP:0000252HP:0000252Microcephaly0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM136119189614194
HP:0000252HP:0000252Microcephaly0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM147219189614194
HP:0000252HP:0000252Microcephaly0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM11002993611428
HP:0000252HP:0000252Microcephaly0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM11312993611428
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H179886309ORPHA11992995191350
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H179886309ORPHA12332995191350
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0000252HP:0000252Microcephaly0DPF2 CL E G H59771465ORPHA1379964601671
HP:0000252HP:0000252Microcephaly0DPF2 CL E G H59771465ORPHA1459964601671
HP:0000252HP:0000252Microcephaly0DPM1 CL E G H881379322ORPHA11563005603503
HP:0000252HP:0000252Microcephaly0DPM1 CL E G H881379322ORPHA11883005603503
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H18042514ORPHA12223010126141
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H18042514ORPHA12253010126141
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12223010126141
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H1804616311Mental retardation, autosomal dominant 33616311C4225375OMIM12253010126141
HP:0000252HP:0000252Microcephaly0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13383012612779
HP:0000252HP:0000252Microcephaly0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM13403012612779
HP:0000252HP:0000252Microcephaly0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM17529043612666
HP:0000252HP:0000252Microcephaly0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM18629043612666
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808239ORPHA119121317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808239ORPHA122921317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM119121317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM122921317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM119121317607461
HP:0000252HP:0000252Microcephaly0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM122921317607461
HP:0000252HP:0000252Microcephaly0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14626114609842
HP:0000252HP:0000252Microcephaly0EDC3 CL E G H80153616460Mental retardation, autosomal recessive 50616460C4225319OMIM14726114609842
HP:0000252HP:0000252Microcephaly0EFNB1 CL E G H19471520ORPHA12013226300035
HP:0000252HP:0000252Microcephaly0EFNB1 CL E G H19471520ORPHA12103226300035
HP:0000252HP:0000252Microcephaly0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM128230858603892
HP:0000252HP:0000252Microcephaly0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM131030858603892
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981396147ORPHA1116424650607001
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981396147ORPHA1130124650607001
HP:0000252HP:0000252Microcephaly0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0000252HP:0000252Microcephaly0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0000252HP:0000252Microcephaly0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0000252HP:0000252Microcephaly0EIF2S3 CL E G H196885282ORPHA11963267300161
HP:0000252HP:0000252Microcephaly0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0000252HP:0000252Microcephaly0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H104361270ORPHA16316912611531
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H104361270ORPHA16916912611531
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM16316912611531
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H10436211180Bowen-Conradi syndrome211180C1859405OMIM16916912611531
HP:0000252HP:0000252Microcephaly0ENTPD1 CL E G H953401810ORPHA1873363601752
HP:0000252HP:0000252Microcephaly0ENTPD1 CL E G H953401810ORPHA11153363601752
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM16783373602700
HP:0000252HP:0000252Microcephaly0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM17313373602700
HP:0000252HP:0000252Microcephaly0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM180129331615068
HP:0000252HP:0000252Microcephaly0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM1103329331615068
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H20671466ORPHA11063433126380
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H20671466ORPHA11103433126380
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20681466ORPHA13603434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20681466ORPHA14793434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM13603434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM14793434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H207284ORPHA14693436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H207284ORPHA15383436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM14693436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072615272Fanconi anemia, complementation group Q615272C3808988OMIM15383436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM14693436133520
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM15383436133520
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20731466ORPHA13613437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20731466ORPHA13743437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM13613437133530
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM13743437133530
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20741466ORPHA18253438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20741466ORPHA19463438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000252HP:0000252Microcephaly0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM113126922615667
HP:0000252HP:0000252Microcephaly0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM130926922615667
HP:0000252HP:0000252Microcephaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0000252HP:0000252Microcephaly0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H1575703103ORPHA134227230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H1575703103ORPHA137627230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM134227230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM137627230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM134227230609353
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM137627230609353
HP:0000252HP:0000252Microcephaly0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000252HP:0000252Microcephaly0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000252HP:0000252Microcephaly0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0000252HP:0000252Microcephaly0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA124522140611061
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA129122140611061
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM124522140611061
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM129122140611061
HP:0000252HP:0000252Microcephaly0FANCA CL E G H217584ORPHA126583582607139
HP:0000252HP:0000252Microcephaly0FANCA CL E G H217584ORPHA131463582607139
HP:0000252HP:0000252Microcephaly0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM126583582607139
HP:0000252HP:0000252Microcephaly0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM131463582607139
HP:0000252HP:0000252Microcephaly0FANCB CL E G H218784ORPHA14103583300515
HP:0000252HP:0000252Microcephaly0FANCB CL E G H218784ORPHA14813583300515
HP:0000252HP:0000252Microcephaly0FANCC CL E G H217684ORPHA110793584613899
HP:0000252HP:0000252Microcephaly0FANCC CL E G H217684ORPHA111753584613899
HP:0000252HP:0000252Microcephaly0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM110793584613899
HP:0000252HP:0000252Microcephaly0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM111753584613899
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H217784ORPHA17293585613984
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H217784ORPHA18643585613984
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM17293585613984
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM18643585613984
HP:0000252HP:0000252Microcephaly0FANCE CL E G H217884ORPHA12813586613976
HP:0000252HP:0000252Microcephaly0FANCE CL E G H217884ORPHA13603586613976
HP:0000252HP:0000252Microcephaly0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM12813586613976
HP:0000252HP:0000252Microcephaly0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM13603586613976
HP:0000252HP:0000252Microcephaly0FANCF CL E G H218884ORPHA12453587613897
HP:0000252HP:0000252Microcephaly0FANCF CL E G H218884ORPHA13123587613897
HP:0000252HP:0000252Microcephaly0FANCG CL E G H218984ORPHA14733588602956
HP:0000252HP:0000252Microcephaly0FANCG CL E G H218984ORPHA15353588602956
HP:0000252HP:0000252Microcephaly0FANCI CL E G H5521584ORPHA179125568611360
HP:0000252HP:0000252Microcephaly0FANCI CL E G H5521584ORPHA1104025568611360
HP:0000252HP:0000252Microcephaly0FANCL CL E G H5512084ORPHA126120748608111
HP:0000252HP:0000252Microcephaly0FANCL CL E G H5512084ORPHA134820748608111
HP:0000252HP:0000252Microcephaly0FANCM CL E G H5769784ORPHA1117923168609644
HP:0000252HP:0000252Microcephaly0FANCM CL E G H5769784ORPHA1145023168609644
HP:0000252HP:0000252Microcephaly0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM16626222616107
HP:0000252HP:0000252Microcephaly0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM112626222616107
HP:0000252HP:0000252Microcephaly0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM136121062611592
HP:0000252HP:0000252Microcephaly0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM142921062611592
HP:0000252HP:0000252Microcephaly0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM12003602604580
HP:0000252HP:0000252Microcephaly0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM12583602604580
HP:0000252HP:0000252Microcephaly0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM115013590607871
HP:0000252HP:0000252Microcephaly0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM129913590607871
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H2253280200ORPHA1663686600483
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H2253280200ORPHA1693686600483
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260280200ORPHA15303688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260280200ORPHA15973688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM15303688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM15973688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260190440Trigonocephaly 1190440C0432122OMIM15303688136350
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H2260190440Trigonocephaly 1190440C0432122OMIM15973688136350
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H226185165ORPHA15413690134934
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H226185165ORPHA15423690134934
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15413690134934
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H2261610474Camptodactyly, tall stature, and hearing loss syndrome610474C1864852OMIM15423690134934
HP:0000252HP:0000252Microcephaly0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000252HP:0000252Microcephaly0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000252HP:0000252Microcephaly0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM111363700136850
HP:0000252HP:0000252Microcephaly0FH CL E G H2271606812Fumarase deficiency606812C0342770OMIM112923700136850
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM155816873609390
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM164916873609390
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM157217997606596
HP:0000252HP:0000252Microcephaly0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM167117997606596
HP:0000252HP:0000252Microcephaly0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15993622607440
HP:0000252HP:0000252Microcephaly0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16793622607440
HP:0000252HP:0000252Microcephaly0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1127427310607273
HP:0000252HP:0000252Microcephaly0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1143927310607273
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H22903095ORPHA14913811164874
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H22903095ORPHA15343811164874
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H8928280200ORPHA12063814603621
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H8928280200ORPHA12203814603621
HP:0000252HP:0000252Microcephaly0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM173719185607830
HP:0000252HP:0000252Microcephaly0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM182219185607830
HP:0000252HP:0000252Microcephaly0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM115224678610966
HP:0000252HP:0000252Microcephaly0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM117724678610966
HP:0000252HP:0000252Microcephaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM115924861611045
HP:0000252HP:0000252Microcephaly0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM119824861611045
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95683095ORPHA15044507607340
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95683095ORPHA15574507607340
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM15044507607340
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H9568617903NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS617903CN870852OMIM15574507607340
HP:0000252HP:0000252Microcephaly0GABRD CL E G H25631606ORPHA13404084137163
HP:0000252HP:0000252Microcephaly0GABRD CL E G H25631606ORPHA13614084137163
HP:0000252HP:0000252Microcephaly0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0000252HP:0000252Microcephaly0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H2619280200ORPHA1524165139185
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H2619280200ORPHA1584165139185
HP:0000252HP:0000252Microcephaly0GATA4 CL E G H2626251071ORPHA14644173600576
HP:0000252HP:0000252Microcephaly0GATA4 CL E G H2626251071ORPHA15414173600576
HP:0000252HP:0000252Microcephaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0000252HP:0000252Microcephaly0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0000252HP:0000252Microcephaly0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0000252HP:0000252Microcephaly0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11694274121014
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11914274121014
HP:0000252HP:0000252Microcephaly0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM13854279121013
HP:0000252HP:0000252Microcephaly0GJA5 CL E G H27026124741q21.1 recurrent microdeletion612474C2675897OMIM14294279121013
HP:0000252HP:0000252Microcephaly0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13764281600897
HP:0000252HP:0000252Microcephaly0GJA8 CL E G H27036124741q21.1 recurrent microdeletion612474C2675897OMIM13914281600897
HP:0000252HP:0000252Microcephaly0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11454285603324
HP:0000252HP:0000252Microcephaly0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11564285603324
HP:0000252HP:0000252Microcephaly0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1534286605425
HP:0000252HP:0000252Microcephaly0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1544286605425
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736280200ORPHA14694318165230
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736280200ORPHA15184318165230
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM14694318165230
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM15184318165230
HP:0000252HP:0000252Microcephaly0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM14924247610516
HP:0000252HP:0000252Microcephaly0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM16724247610516
HP:0000252HP:0000252Microcephaly0GMNN CL E G H510532554ORPHA13917493602842
HP:0000252HP:0000252Microcephaly0GMNN CL E G H510532554ORPHA14517493602842
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0000252HP:0000252Microcephaly0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0000252HP:0000252Microcephaly0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0000252HP:0000252Microcephaly0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000252HP:0000252Microcephaly0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000252HP:0000252Microcephaly0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA116730677301003
HP:0000252HP:0000252Microcephaly0GPKOW CL E G H272382570Growth deficiency brachydactyly unusual faciesORPHA117030677301003
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17418062138210
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17618062138210
HP:0000252HP:0000252Microcephaly0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0000252HP:0000252Microcephaly0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0000252HP:0000252Microcephaly0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM1904651189964
HP:0000252HP:0000252Microcephaly0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM11164651189964
HP:0000252HP:0000252Microcephaly0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0000252HP:0000252Microcephaly0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0000252HP:0000252Microcephaly0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0000252HP:0000252Microcephaly0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0000252HP:0000252Microcephaly0HBA1 CL E G H303998791ORPHA13694823141800
HP:0000252HP:0000252Microcephaly0HBA1 CL E G H303998791ORPHA13754823141800
HP:0000252HP:0000252Microcephaly0HBA2 CL E G H304098791ORPHA13034824141850
HP:0000252HP:0000252Microcephaly0HBA2 CL E G H304098791ORPHA13204824141850
HP:0000252HP:0000252Microcephaly0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12144837300056
HP:0000252HP:0000252Microcephaly0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM12204837300056
HP:0000252HP:0000252Microcephaly0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16014839300019
HP:0000252HP:0000252Microcephaly0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM16344839300019
HP:0000252HP:0000252Microcephaly0HDAC4 CL E G H97591001Branchial arch defectsORPHA138514063605314
HP:0000252HP:0000252Microcephaly0HDAC4 CL E G H97591001Branchial arch defectsORPHA140714063605314
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM126913315300269
HP:0000252HP:0000252Microcephaly0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM128713315300269
HP:0000252HP:0000252Microcephaly0HHAT CL E G H557331422Cohen Hayden syndromeORPHA15618270605743
HP:0000252HP:0000252Microcephaly0HHAT CL E G H557331422Cohen Hayden syndromeORPHA16218270605743
HP:0000252HP:0000252Microcephaly0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11895004300193
HP:0000252HP:0000252Microcephaly0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11925004300193
HP:0000252HP:0000252Microcephaly0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1375028605238
HP:0000252HP:0000252Microcephaly0HNMT CL E G H3176616739Mental retardation, autosomal recessive 51616739C4225220OMIM1405028605238
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192238769ORPHA14985048602869
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192238769ORPHA15715048602869
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM14985048602869
HP:0000252HP:0000252Microcephaly0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM15715048602869
HP:0000252HP:0000252Microcephaly0IARS CL E G H3376617093Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy617093C4310720OMIM15330600709
HP:0000252HP:0000252Microcephaly0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0000252HP:0000252Microcephaly0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0000252HP:0000252Microcephaly0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM110918550609382
HP:0000252HP:0000252Microcephaly0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM111818550609382
HP:0000252HP:0000252Microcephaly0IFIH1 CL E G H6413551ORPHA147618873606951
HP:0000252HP:0000252Microcephaly0IFIH1 CL E G H6413551ORPHA171818873606951
HP:0000252HP:0000252Microcephaly0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM114221424608040
HP:0000252HP:0000252Microcephaly0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM121021424608040
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H347973272ORPHA11705464147440
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H347973272ORPHA11785464147440
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000252HP:0000252Microcephaly0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H348073273ORPHA16625465147370
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H348073273ORPHA16805465147370
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16625465147370
HP:0000252HP:0000252Microcephaly0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM16805465147370
HP:0000252HP:0000252Microcephaly0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000252HP:0000252Microcephaly0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000252HP:0000252Microcephaly0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM11556139605025
HP:0000252HP:0000252Microcephaly0ITGA3 CL E G H3675614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital614748C3553636OMIM11686139605025
HP:0000252HP:0000252Microcephaly0ITGB6 CL E G H36942850ORPHA1906161147558
HP:0000252HP:0000252Microcephaly0ITGB6 CL E G H36942850ORPHA1926161147558
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994457193ORPHA140013013601408
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994457193ORPHA142713013601408
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM140013013601408
HP:0000252HP:0000252Microcephaly0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM142713013601408
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H235223047ORPHA139617582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H235223047ORPHA148717582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H2352285201ORPHA139617582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H2352285201ORPHA148717582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM139617582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM148717582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM139617582605880
HP:0000252HP:0000252Microcephaly0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM148717582605880
HP:0000252HP:0000252Microcephaly0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11536217602703
HP:0000252HP:0000252Microcephaly0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM11696217602703
HP:0000252HP:0000252Microcephaly0KCNAB2 CL E G H85141606ORPHA1886229601142
HP:0000252HP:0000252Microcephaly0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0000252HP:0000252Microcephaly0KCNJ11 CL E G H3767276580ORPHA13016257600937
HP:0000252HP:0000252Microcephaly0KCNJ11 CL E G H3767276580ORPHA13226257600937
HP:0000252HP:0000252Microcephaly0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14046263600681
HP:0000252HP:0000252Microcephaly0KCNJ2 CL E G H3759170390Andersen Tawil syndrome170390C1563715OMIM14496263600681
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11016267600877
HP:0000252HP:0000252Microcephaly0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11156267600877
HP:0000252HP:0000252Microcephaly0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1130318865608167
HP:0000252HP:0000252Microcephaly0KCNT1 CL E G H57582614959Early infantile epileptic encephalopathy 14614959C3554195OMIM1147618865608167
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H74032322ORPHA150212637300128
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H74032322ORPHA156212637300128
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0000252HP:0000252Microcephaly0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0000252HP:0000252Microcephaly0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1934021136440
HP:0000252HP:0000252Microcephaly0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1964021136440
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H38322526ORPHA14056388148760
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H38322526ORPHA14986388148760
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0000252HP:0000252Microcephaly0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H99282512ORPHA113519181611279
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H99282512ORPHA115119181611279
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H9928616258Meckel syndrome 12616258C4015701OMIM113519181611279
HP:0000252HP:0000252Microcephaly0KIF14 CL E G H9928616258Meckel syndrome 12616258C4015701OMIM115119181611279
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H5472836ORPHA11441888601255
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H5472836ORPHA11735888601255
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11441888601255
HP:0000252HP:0000252Microcephaly0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11735888601255
HP:0000252HP:0000252Microcephaly0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0000252HP:0000252Microcephaly0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM123419609367
HP:0000252HP:0000252Microcephaly0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0000252HP:0000252Microcephaly0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0000252HP:0000252Microcephaly0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM11636318602591
HP:0000252HP:0000252Microcephaly0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM12236318602591
HP:0000252HP:0000252Microcephaly0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0000252HP:0000252Microcephaly0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0000252HP:0000252Microcephaly0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM11716325604593
HP:0000252HP:0000252Microcephaly0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM11776325604593
HP:0000252HP:0000252Microcephaly0KLHL7 CL E G H5597597297ORPHA117615646611119
HP:0000252HP:0000252Microcephaly0KLHL7 CL E G H5597597297ORPHA121115646611119
HP:0000252HP:0000252Microcephaly0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA1673