Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of skull size (HP:0000240)help
Parent Node:
expand
Aplasia/Hypoplasia of the cerebrum (HP:0007364)help
Parent Node:
expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000252HP:0000252Microcephaly0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000252HP:0000252Microcephaly0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000252HP:0000252Microcephaly0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0000252HP:0000252Microcephaly0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0000252HP:0000252Microcephaly0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0000252HP:0000252Microcephaly0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare90
HP:0000252HP:0000252Microcephaly0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0000252HP:0000252Microcephaly0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0000252HP:0000252Microcephaly0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000252HP:0000252Microcephaly0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0000252HP:0000252Microcephaly0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0000252HP:0000252Microcephaly0ACE CL E G H16362707OMIM:267430Renal tubular dysgenesis.113
HP:0000252HP:0000252Microcephaly0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0000252HP:0000252Microcephaly0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0000252HP:0000252Microcephaly0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0000252HP:0000252Microcephaly0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0000252HP:0000252Microcephaly0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000252HP:0000252Microcephaly0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0000252HP:0000252Microcephaly0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000252HP:0000252Microcephaly0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0000252HP:0000252Microcephaly0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0000252HP:0000252Microcephaly0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects.2
HP:0000252HP:0000252Microcephaly0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000252HP:0000252Microcephaly0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0000252HP:0000252Microcephaly0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0000252HP:0000252Microcephaly0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6HP:0040283 - Occasional116
HP:0000252HP:0000252Microcephaly0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000252HP:0000252Microcephaly0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040282 - Frequent9
HP:0000252HP:0000252Microcephaly0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36HP:0040283 - Occasional9
HP:0000252HP:0000252Microcephaly0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0000252HP:0000252Microcephaly0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040283 - Occasional88
HP:0000252HP:0000252Microcephaly0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0000252HP:0000252Microcephaly0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000252HP:0000252Microcephaly0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000252HP:0000252Microcephaly0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000252HP:0000252Microcephaly0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiencyHP:0040283 - Occasional118
HP:0000252HP:0000252Microcephaly0ADSL CL E G H158291ORPHA:46Adenylosuccinate lyase deficiencyHP:0040281 - Very frequent118
HP:0000252HP:0000252Microcephaly0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0000252HP:0000252Microcephaly0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000252HP:0000252Microcephaly0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0000252HP:0000252Microcephaly0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0000252HP:0000252Microcephaly0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0000252HP:0000252Microcephaly0AGGF1 CL E G H5510924684ORPHA:90308Klippel-Trénaunay syndromeHP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0AGT CL E G H183333OMIM:267430Renal tubular dysgenesis.48
HP:0000252HP:0000252Microcephaly0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0000252HP:0000252Microcephaly0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000252HP:0000252Microcephaly0AGTR1 CL E G H185336OMIM:267430Renal tubular dysgenesis.33
HP:0000252HP:0000252Microcephaly0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040283 - Occasional31
HP:0000252HP:0000252Microcephaly0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040281 - Very frequent5
HP:0000252HP:0000252Microcephaly0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0000252HP:0000252Microcephaly0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0000252HP:0000252Microcephaly0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0000252HP:0000252Microcephaly0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040283 - Occasional87
HP:0000252HP:0000252Microcephaly0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDG58
HP:0000252HP:0000252Microcephaly0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000252HP:0000252Microcephaly0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040282 - Frequent41
HP:0000252HP:0000252Microcephaly0ALG11 CL E G H44013832456OMIM:613661Congenital disorder of glycosylation, type IpHP:0040283 - Occasional41
HP:0000252HP:0000252Microcephaly0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0000252HP:0000252Microcephaly0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0000252HP:0000252Microcephaly0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0000252HP:0000252Microcephaly0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000252HP:0000252Microcephaly0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040282 - Frequent37
HP:0000252HP:0000252Microcephaly0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0000252HP:0000252Microcephaly0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0000252HP:0000252Microcephaly0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0000252HP:0000252Microcephaly0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0000252HP:0000252Microcephaly0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2.132
HP:0000252HP:0000252Microcephaly0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000252HP:0000252Microcephaly0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040282 - Frequent150
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0000252HP:0000252Microcephaly0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000252HP:0000252Microcephaly0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000252HP:0000252Microcephaly0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000252HP:0000252Microcephaly0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000252HP:0000252Microcephaly0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000252HP:0000252Microcephaly0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0000252HP:0000252Microcephaly0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000252HP:0000252Microcephaly0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent49
HP:0000252HP:0000252Microcephaly0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent48
HP:0000252HP:0000252Microcephaly0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent41
HP:0000252HP:0000252Microcephaly0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent18
HP:0000252HP:0000252Microcephaly0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive.18
HP:0000252HP:0000252Microcephaly0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000252HP:0000252Microcephaly0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0000252HP:0000252Microcephaly0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0000252HP:0000252Microcephaly0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000252HP:0000252Microcephaly0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare88
HP:0000252HP:0000252Microcephaly0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040281 - Very frequent219
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare219
HP:0000252HP:0000252Microcephaly0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000252HP:0000252Microcephaly0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare25
HP:0000252HP:0000252Microcephaly0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0000252HP:0000252Microcephaly0ARPC4 CL E G H10093707OMIM:620141
HP:0000252HP:0000252Microcephaly0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0000252HP:0000252Microcephaly0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040281 - Very frequent166
HP:0000252HP:0000252Microcephaly0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000252HP:0000252Microcephaly0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0000252HP:0000252Microcephaly0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0000252HP:0000252Microcephaly0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040281 - Very frequent166
HP:0000252HP:0000252Microcephaly0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000252HP:0000252Microcephaly0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0000252HP:0000252Microcephaly0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0000252HP:0000252Microcephaly0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0000252HP:0000252Microcephaly0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000252HP:0000252Microcephaly0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000252HP:0000252Microcephaly0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000252HP:0000252Microcephaly0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000252HP:0000252Microcephaly0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000252HP:0000252Microcephaly0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0000252HP:0000252Microcephaly0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000252HP:0000252Microcephaly0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000252HP:0000252Microcephaly0ATP1A2 CL E G H477800OMIM:619602FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD239
HP:0000252HP:0000252Microcephaly0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000252HP:0000252Microcephaly0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0000252HP:0000252Microcephaly0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000252HP:0000252Microcephaly0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000252HP:0000252Microcephaly0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0000252HP:0000252Microcephaly0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0000252HP:0000252Microcephaly0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3HP:0040284 - Very rare3
HP:0000252HP:0000252Microcephaly0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000252HP:0000252Microcephaly0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0000252HP:0000252Microcephaly0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0000252HP:0000252Microcephaly0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0000252HP:0000252Microcephaly0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0000252HP:0000252Microcephaly0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000252HP:0000252Microcephaly0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040281 - Very frequent169
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000252HP:0000252Microcephaly0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000252HP:0000252Microcephaly0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0000252HP:0000252Microcephaly0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000252HP:0000252Microcephaly0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000252HP:0000252Microcephaly0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000252HP:0000252Microcephaly0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000252HP:0000252Microcephaly0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000252HP:0000252Microcephaly0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000252HP:0000252Microcephaly0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040281 - Very frequent28
HP:0000252HP:0000252Microcephaly0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040281 - Very frequent34
HP:0000252HP:0000252Microcephaly0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0000252HP:0000252Microcephaly0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0000252HP:0000252Microcephaly0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000252HP:0000252Microcephaly0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobin.11
HP:0000252HP:0000252Microcephaly0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000252HP:0000252Microcephaly0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000252HP:0000252Microcephaly0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000252HP:0000252Microcephaly0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0000252HP:0000252Microcephaly0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0000252HP:0000252Microcephaly0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000252HP:0000252Microcephaly0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000252HP:0000252Microcephaly0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare16
HP:0000252HP:0000252Microcephaly0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0000252HP:0000252Microcephaly0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000252HP:0000252Microcephaly0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0000252HP:0000252Microcephaly0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0000252HP:0000252Microcephaly0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatal.20
HP:0000252HP:0000252Microcephaly0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040282 - Frequent5769
HP:0000252HP:0000252Microcephaly0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0000252HP:0000252Microcephaly0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040282 - Frequent7642
HP:0000252HP:0000252Microcephaly0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0000252HP:0000252Microcephaly0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0000252HP:0000252Microcephaly0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040281 - Very frequent7
HP:0000252HP:0000252Microcephaly0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0000252HP:0000252Microcephaly0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040282 - Frequent1086
HP:0000252HP:0000252Microcephaly0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosisHP:0040283 - Occasional10
HP:0000252HP:0000252Microcephaly0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent5
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent76
HP:0000252HP:0000252Microcephaly0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000252HP:0000252Microcephaly0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000252HP:0000252Microcephaly0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000252HP:0000252Microcephaly0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0000252HP:0000252Microcephaly0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000252HP:0000252Microcephaly0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0000252HP:0000252Microcephaly0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000252HP:0000252Microcephaly0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsHP:0040284 - Very rare32
HP:0000252HP:0000252Microcephaly0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000252HP:0000252Microcephaly0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000252HP:0000252Microcephaly0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54HP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000252HP:0000252Microcephaly0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000252HP:0000252Microcephaly0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0000252HP:0000252Microcephaly0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0000252HP:0000252Microcephaly0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0000252HP:0000252Microcephaly0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000252HP:0000252Microcephaly0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 357
HP:0000252HP:0000252Microcephaly0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040281 - Very frequent247
HP:0000252HP:0000252Microcephaly0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000252HP:0000252Microcephaly0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000252HP:0000252Microcephaly0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0000252HP:0000252Microcephaly0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome1
HP:0000252HP:0000252Microcephaly0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000252HP:0000252Microcephaly0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000252HP:0000252Microcephaly0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000252HP:0000252Microcephaly0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000252HP:0000252Microcephaly0CDC42BPB CL E G H95781738OMIM:619841
HP:0000252HP:0000252Microcephaly0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0000252HP:0000252Microcephaly0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0000252HP:0000252Microcephaly0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000252HP:0000252Microcephaly0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000252HP:0000252Microcephaly0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0000252HP:0000252Microcephaly0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0000252HP:0000252Microcephaly0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderHP:0040283 - Occasional8
HP:0000252HP:0000252Microcephaly0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0000252HP:0000252Microcephaly0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive.181
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0000252HP:0000252Microcephaly0CDK6 CL E G H10211777OMIM:616080Microcephaly 12, primary, autosomal recessive.6
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0000252HP:0000252Microcephaly0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000252HP:0000252Microcephaly0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0000252HP:0000252Microcephaly0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0000252HP:0000252Microcephaly0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0000252HP:0000252Microcephaly0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0000252HP:0000252Microcephaly0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6.161
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0000252HP:0000252Microcephaly0CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4.161
HP:0000252HP:0000252Microcephaly0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0000252HP:0000252Microcephaly0CEP135 CL E G H966229086OMIM:614673Microcephaly 8, primary, autosomal recessive.38
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive.146
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0000252HP:0000252Microcephaly0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0000252HP:0000252Microcephaly0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040281 - Very frequent342
HP:0000252HP:0000252Microcephaly0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4HP:0040283 - Occasional342
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040282 - Frequent17
HP:0000252HP:0000252Microcephaly0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0000252HP:0000252Microcephaly0CEP63 CL E G H8025425815OMIM:614728Seckel syndrome 6.31
HP:0000252HP:0000252Microcephaly0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000252HP:0000252Microcephaly0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0000252HP:0000252Microcephaly0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40HP:0040283 - Occasional16
HP:0000252HP:0000252Microcephaly0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0000252HP:0000252Microcephaly0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0000252HP:0000252Microcephaly0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000252HP:0000252Microcephaly0CHKA CL E G H11191937OMIM:620023
HP:0000252HP:0000252Microcephaly0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0000252HP:0000252Microcephaly0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000252HP:0000252Microcephaly0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000252HP:0000252Microcephaly0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000252HP:0000252Microcephaly0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000252HP:0000252Microcephaly0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0000252HP:0000252Microcephaly0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000252HP:0000252Microcephaly0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0000252HP:0000252Microcephaly0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000252HP:0000252Microcephaly0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000252HP:0000252Microcephaly0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0000252HP:0000252Microcephaly0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0000252HP:0000252Microcephaly0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000252HP:0000252Microcephaly0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0000252HP:0000252Microcephaly0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0000252HP:0000252Microcephaly0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0000252HP:0000252Microcephaly0CLPP CL E G H81922084OMIM:614129Perrault syndrome 3HP:0040283 - Occasional13
HP:0000252HP:0000252Microcephaly0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000252HP:0000252Microcephaly0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000252HP:0000252Microcephaly0CNNM2 CL E G H54805103OMIM:616418Hypomagnesemia, seizures, and mental retardation.47
HP:0000252HP:0000252Microcephaly0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000252HP:0000252Microcephaly0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000252HP:0000252Microcephaly0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000252HP:0000252Microcephaly0COASY CL E G H8034729932OMIM:618266Pontocerebellar hypoplasia, type 12.16
HP:0000252HP:0000252Microcephaly0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0000252HP:0000252Microcephaly0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0000252HP:0000252Microcephaly0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0000252HP:0000252Microcephaly0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0000252HP:0000252Microcephaly0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67
HP:0000252HP:0000252Microcephaly0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040282 - Frequent79
HP:0000252HP:0000252Microcephaly0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0000252HP:0000252Microcephaly0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000252HP:0000252Microcephaly0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0000252HP:0000252Microcephaly0COG6 CL E G H5751118621OMIM:615328Shaheen syndromeHP:0040283 - Occasional71
HP:0000252HP:0000252Microcephaly0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0000252HP:0000252Microcephaly0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0000252HP:0000252Microcephaly0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0000252HP:0000252Microcephaly0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000252HP:0000252Microcephaly0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000252HP:0000252Microcephaly0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000252HP:0000252Microcephaly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000252HP:0000252Microcephaly0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762232OMIM:619884
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0000252HP:0000252Microcephaly0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive.
HP:0000252HP:0000252Microcephaly0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 544
HP:0000252HP:0000252Microcephaly0COX15 CL E G H13552263OMIM:615119Mitochondrial complex IV deficiency, nuclear type 6.104
HP:0000252HP:0000252Microcephaly0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040280 - Obligate6
HP:0000252HP:0000252Microcephaly0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000252HP:0000252Microcephaly0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000252HP:0000252Microcephaly0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0000252HP:0000252Microcephaly0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000252HP:0000252Microcephaly0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0000252HP:0000252Microcephaly0CPSF3 CL E G H516922326OMIM:619876
HP:0000252HP:0000252Microcephaly0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0000252HP:0000252Microcephaly0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0000252HP:0000252Microcephaly0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000252HP:0000252Microcephaly0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000252HP:0000252Microcephaly0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040281 - Very frequent57
HP:0000252HP:0000252Microcephaly0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000252HP:0000252Microcephaly0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0000252HP:0000252Microcephaly0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000252HP:0000252Microcephaly0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000252HP:0000252Microcephaly0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 92
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects.88
HP:0000252HP:0000252Microcephaly0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040281 - Very frequent88
HP:0000252HP:0000252Microcephaly0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040281 - Very frequent15
HP:0000252HP:0000252Microcephaly0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0000252HP:0000252Microcephaly0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.1
HP:0000252HP:0000252Microcephaly0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000252HP:0000252Microcephaly0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0000252HP:0000252Microcephaly0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0000252HP:0000252Microcephaly0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0000252HP:0000252Microcephaly0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0000252HP:0000252Microcephaly0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0CYP26C1 CL E G H34066520577ORPHA:398189Focal facial dermal dysplasia type IVHP:0040282 - Frequent2
HP:0000252HP:0000252Microcephaly0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional108
HP:0000252HP:0000252Microcephaly0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0000252HP:0000252Microcephaly0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0000252HP:0000252Microcephaly0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0000252HP:0000252Microcephaly0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation145
HP:0000252HP:0000252Microcephaly0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0000252HP:0000252Microcephaly0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000252HP:0000252Microcephaly0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000252HP:0000252Microcephaly0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0000252HP:0000252Microcephaly0DDX59 CL E G H8347925360ORPHA:2919Orofaciodigital syndrome type 5HP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000252HP:0000252Microcephaly0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000252HP:0000252Microcephaly0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0000252HP:0000252Microcephaly0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional33
HP:0000252HP:0000252Microcephaly0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0000252HP:0000252Microcephaly0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49.6
HP:0000252HP:0000252Microcephaly0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome.
HP:0000252HP:0000252Microcephaly0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome.
HP:0000252HP:0000252Microcephaly0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome.
HP:0000252HP:0000252Microcephaly0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0000252HP:0000252Microcephaly0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0000252HP:0000252Microcephaly0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000252HP:0000252Microcephaly0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0000252HP:0000252Microcephaly0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000252HP:0000252Microcephaly0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency7
HP:0000252HP:0000252Microcephaly0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000252HP:0000252Microcephaly0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0000252HP:0000252Microcephaly0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000252HP:0000252Microcephaly0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0000252HP:0000252Microcephaly0DISC1 CL E G H271852888ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome2
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent22
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000252HP:0000252Microcephaly0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000252HP:0000252Microcephaly0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0000252HP:0000252Microcephaly0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040283 - Occasional82
HP:0000252HP:0000252Microcephaly0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0000252HP:0000252Microcephaly0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0000252HP:0000252Microcephaly0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0000252HP:0000252Microcephaly0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000252HP:0000252Microcephaly0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0000252HP:0000252Microcephaly0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 8.41
HP:0000252HP:0000252Microcephaly0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040283 - Occasional5
HP:0000252HP:0000252Microcephaly0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000252HP:0000252Microcephaly0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000252HP:0000252Microcephaly0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0000252HP:0000252Microcephaly0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2.18
HP:0000252HP:0000252Microcephaly0DOHH CL E G H8347528662OMIM:620066
HP:0000252HP:0000252Microcephaly0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0000252HP:0000252Microcephaly0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000252HP:0000252Microcephaly0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0000252HP:0000252Microcephaly0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0000252HP:0000252Microcephaly0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000252HP:0000252Microcephaly0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0DPH2 CL E G H18023004OMIM:620062
HP:0000252HP:0000252Microcephaly0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0000252HP:0000252Microcephaly0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0000252HP:0000252Microcephaly0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0000252HP:0000252Microcephaly0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephalyHP:0040281 - Very frequent18
HP:0000252HP:0000252Microcephaly0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0000252HP:0000252Microcephaly0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000252HP:0000252Microcephaly0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000252HP:0000252Microcephaly0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0000252HP:0000252Microcephaly0DTYMK CL E G H18413061OMIM:619847
HP:0000252HP:0000252Microcephaly0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0000252HP:0000252Microcephaly0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000252HP:0000252Microcephaly0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0000252HP:0000252Microcephaly0DYNC1H1 CL E G H17782961OMIM:614563Mental retardation, autosomal dominant 13HP:0040283 - Occasional427
HP:0000252HP:0000252Microcephaly0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000252HP:0000252Microcephaly0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0000252HP:0000252Microcephaly0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040281 - Very frequent134
HP:0000252HP:0000252Microcephaly0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000252HP:0000252Microcephaly0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000252HP:0000252Microcephaly0EDC3 CL E G H8015326114OMIM:616460Mental retardation, autosomal recessive 50.1
HP:0000252HP:0000252Microcephaly0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0000252HP:0000252Microcephaly0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0000252HP:0000252Microcephaly0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000252HP:0000252Microcephaly0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IBHP:0040283 - Occasional45
HP:0000252HP:0000252Microcephaly0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0000252HP:0000252Microcephaly0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000252HP:0000252Microcephaly0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000252HP:0000252Microcephaly0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000252HP:0000252Microcephaly0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0000252HP:0000252Microcephaly0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000252HP:0000252Microcephaly0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000252HP:0000252Microcephaly0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0000252HP:0000252Microcephaly0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter42
HP:0000252HP:0000252Microcephaly0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter24
HP:0000252HP:0000252Microcephaly0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter32
HP:0000252HP:0000252Microcephaly0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter38
HP:0000252HP:0000252Microcephaly0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter48
HP:0000252HP:0000252Microcephaly0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0000252HP:0000252Microcephaly0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0000252HP:0000252Microcephaly0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0000252HP:0000252Microcephaly0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000252HP:0000252Microcephaly0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17HP:0040283 - Occasional67
HP:0000252HP:0000252Microcephaly0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000252HP:0000252Microcephaly0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000252HP:0000252Microcephaly0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardationHP:0040283 - Occasional62
HP:0000252HP:0000252Microcephaly0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000252HP:0000252Microcephaly0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0000252HP:0000252Microcephaly0EMG1 CL E G H1043616912OMIM:211180Bowen-Conradi syndrome.2
HP:0000252HP:0000252Microcephaly0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0000252HP:0000252Microcephaly0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 64HP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0000252HP:0000252Microcephaly0EOMES CL E G H83203372ORPHA:171703Microcephaly-polymicrogyria-corpus callosum agenesis syndrome7
HP:0000252HP:0000252Microcephaly0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000252HP:0000252Microcephaly0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0000252HP:0000252Microcephaly0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0000252HP:0000252Microcephaly0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000252HP:0000252Microcephaly0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15HP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0000252HP:0000252Microcephaly0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000252HP:0000252Microcephaly0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000252HP:0000252Microcephaly0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040282 - Frequent158
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436OMIM:615272Fanconi anemia, complementation group Q.158
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0000252HP:0000252Microcephaly0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3.83
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0000252HP:0000252Microcephaly0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0000252HP:0000252Microcephaly0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000252HP:0000252Microcephaly0ERCC6L2 CL E G H37574826922OMIM:615715Bone marrow failure syndrome 2.4
HP:0000252HP:0000252Microcephaly0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000252HP:0000252Microcephaly0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040281 - Very frequent92
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0000252HP:0000252Microcephaly0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000252HP:0000252Microcephaly0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome.
HP:0000252HP:0000252Microcephaly0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000252HP:0000252Microcephaly0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000252HP:0000252Microcephaly0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000252HP:0000252Microcephaly0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000252HP:0000252Microcephaly0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000252HP:0000252Microcephaly0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B38
HP:0000252HP:0000252Microcephaly0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000252HP:0000252Microcephaly0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000252HP:0000252Microcephaly0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000252HP:0000252Microcephaly0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0000252HP:0000252Microcephaly0EXT1 CL E G H21313512ORPHA:502Trichorhinophalangeal syndrome type 2HP:0040283 - Occasional96
HP:0000252HP:0000252Microcephaly0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000252HP:0000252Microcephaly0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040283 - Occasional102
HP:0000252HP:0000252Microcephaly0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0000252HP:0000252Microcephaly0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0000252HP:0000252Microcephaly0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0000252HP:0000252Microcephaly0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040282 - Frequent340
HP:0000252HP:0000252Microcephaly0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000252HP:0000252Microcephaly0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040282 - Frequent58
HP:0000252HP:0000252Microcephaly0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040282 - Frequent410
HP:0000252HP:0000252Microcephaly0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040282 - Frequent147
HP:0000252HP:0000252Microcephaly0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000252HP:0000252Microcephaly0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0000252HP:0000252Microcephaly0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000252HP:0000252Microcephaly0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040282 - Frequent87
HP:0000252HP:0000252Microcephaly0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000252HP:0000252Microcephaly0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040282 - Frequent73
HP:0000252HP:0000252Microcephaly0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0000252HP:0000252Microcephaly0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040282 - Frequent157
HP:0000252HP:0000252Microcephaly0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0000252HP:0000252Microcephaly0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040282 - Frequent53
HP:0000252HP:0000252Microcephaly0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040282 - Frequent107
HP:0000252HP:0000252Microcephaly0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0000252HP:0000252Microcephaly0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000252HP:0000252Microcephaly0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0000252HP:0000252Microcephaly0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0000252HP:0000252Microcephaly0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0000252HP:0000252Microcephaly0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0000252HP:0000252Microcephaly0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000252HP:0000252Microcephaly0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0000252HP:0000252Microcephaly0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0000252HP:0000252Microcephaly0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defectsHP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0000252HP:0000252Microcephaly0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000252HP:0000252Microcephaly0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000252HP:0000252Microcephaly0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 473
HP:0000252HP:0000252Microcephaly0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent17
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000252HP:0000252Microcephaly0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent172
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000252HP:0000252Microcephaly0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0000252HP:0000252Microcephaly0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0000252HP:0000252Microcephaly0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000252HP:0000252Microcephaly0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040283 - Occasional111
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000252HP:0000252Microcephaly0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000252HP:0000252Microcephaly0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040283 - Occasional157
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0000252HP:0000252Microcephaly0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional157
HP:0000252HP:0000252Microcephaly0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040283 - Occasional184
HP:0000252HP:0000252Microcephaly0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000252HP:0000252Microcephaly0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional184
HP:0000252HP:0000252Microcephaly0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000252HP:0000252Microcephaly0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0000252HP:0000252Microcephaly0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent48
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000252HP:0000252Microcephaly0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0000252HP:0000252Microcephaly0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional61
HP:0000252HP:0000252Microcephaly0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0000252HP:0000252Microcephaly0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000252HP:0000252Microcephaly0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0000252HP:0000252Microcephaly0FREM1 CL E G H15832623399OMIM:614485Trigonocephaly 2HP:0040283 - Occasional198
HP:0000252HP:0000252Microcephaly0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0000252HP:0000252Microcephaly0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia1
HP:0000252HP:0000252Microcephaly0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0000252HP:0000252Microcephaly0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare50
HP:0000252HP:0000252Microcephaly0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000252HP:0000252Microcephaly0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0000252HP:0000252Microcephaly0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0000252HP:0000252Microcephaly0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0000252HP:0000252Microcephaly0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0000252HP:0000252Microcephaly0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000252HP:0000252Microcephaly0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0000252HP:0000252Microcephaly0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000252HP:0000252Microcephaly0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000252HP:0000252Microcephaly0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000252HP:0000252Microcephaly0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0000252HP:0000252Microcephaly0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000252HP:0000252Microcephaly0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000252HP:0000252Microcephaly0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000252HP:0000252Microcephaly0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0000252HP:0000252Microcephaly0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent2
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000252HP:0000252Microcephaly0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000252HP:0000252Microcephaly0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000252HP:0000252Microcephaly0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defectsHP:0040283 - Occasional37
HP:0000252HP:0000252Microcephaly0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000252HP:0000252Microcephaly0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0000252HP:0000252Microcephaly0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0000252HP:0000252Microcephaly0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0000252HP:0000252Microcephaly0GFM2 CL E G H8434029682OMIM:618397Combined oxidative phosphorylation deficiency 39HP:0040284 - Very rare43
HP:0000252HP:0000252Microcephaly0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55HP:0040284 - Very rare
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0000252HP:0000252Microcephaly0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0000252HP:0000252Microcephaly0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0000252HP:0000252Microcephaly0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0000252HP:0000252Microcephaly0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0000252HP:0000252Microcephaly0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0000252HP:0000252Microcephaly0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell diseaseHP:0040284 - Very rare45
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000252HP:0000252Microcephaly0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0000252HP:0000252Microcephaly0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000252HP:0000252Microcephaly0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040282 - Frequent6
HP:0000252HP:0000252Microcephaly0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0000252HP:0000252Microcephaly0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0000252HP:0000252Microcephaly0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 6.3
HP:0000252HP:0000252Microcephaly0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0000252HP:0000252Microcephaly0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14HP:0040283 - Occasional34
HP:0000252HP:0000252Microcephaly0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0000252HP:0000252Microcephaly0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movementsHP:0040284 - Very rare36
HP:0000252HP:0000252Microcephaly0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0000252HP:0000252Microcephaly0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0000252HP:0000252Microcephaly0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000252HP:0000252Microcephaly0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0000252HP:0000252Microcephaly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000252HP:0000252Microcephaly0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040281 - Very frequent
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0000252HP:0000252Microcephaly0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0000252HP:0000252Microcephaly0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000252HP:0000252Microcephaly0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000252HP:0000252Microcephaly0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000252HP:0000252Microcephaly0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0000252HP:0000252Microcephaly0GRIN1 CL E G H29024584OMIM:619814DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101108
HP:0000252HP:0000252Microcephaly0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0000252HP:0000252Microcephaly0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantHP:0040284 - Very rare108
HP:0000252HP:0000252Microcephaly0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0000252HP:0000252Microcephaly0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000252HP:0000252Microcephaly0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27HP:0040284 - Very rare274
HP:0000252HP:0000252Microcephaly0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizuresHP:0040284 - Very rare274
HP:0000252HP:0000252Microcephaly0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0000252HP:0000252Microcephaly0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0000252HP:0000252Microcephaly0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0000252HP:0000252Microcephaly0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0000252HP:0000252Microcephaly0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000252HP:0000252Microcephaly0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive.2
HP:0000252HP:0000252Microcephaly0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000252HP:0000252Microcephaly0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000252HP:0000252Microcephaly0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000252HP:0000252Microcephaly0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000252HP:0000252Microcephaly0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000252HP:0000252Microcephaly0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000252HP:0000252Microcephaly0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000252HP:0000252Microcephaly0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000252HP:0000252Microcephaly0H4C5 CL E G H83674790OMIM:619950
HP:0000252HP:0000252Microcephaly0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 1.2
HP:0000252HP:0000252Microcephaly0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizuresHP:0040283 - Occasional10
HP:0000252HP:0000252Microcephaly0HACE1 CL E G H5753121033