Microcephaly

Disease Term Disease ID Gene Symbol Classification References Source
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
616402C4225338MONDO:0014623OMIM:616402
SASS6 Causal
24951542 29096039 30639237
CTD ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MONDO:0014660
MFSD2A Causal
26005865
CTD ClinVar
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
616681C4225249MONDO:0014730OMIM:616681
ANKLE2 Causal
25259927 30214071
CTD ClinVar Disgenet HPO
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
617090C4310723MONDO:0014908OMIM:617090
CIT Causal
27453579 27503289
CTD ClinVar Disgenet GWAS catalog HPO
RHO Causal — Disgenet
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT
617520C4479608MONDO:0054593
WDFY3 Causal — ClinVar Disgenet HPO
MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE
617800C4540488MONDO:0054716
COPB2 Causal
29036432
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
604317C1858535MONDO:0011435
WDR62 Causal
18932069 20729831 24875059 27974163
ClinGen ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
617914C4693572MONDO:0054761
KIF14 Causal
23308235 250508 28892560 29343805
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE
617983C4693831MONDO:0054804
NCAPD2 Causal — ClinVar Disgenet GenCC HPO
GAPDH Unknown — Disgenet
MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE
617984C4693834MONDO:0054805
NCAPD3 Causal
27737959
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE
617985C4693843MONDO:0054806
NCAPH Causal
20541044 27737959
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE
618179C4748555MONDO:0032583
NUP37 Causal — ClinVar Disgenet HPO
MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE
618351C5193046MONDO:0032694
TRAPPC14 Causal — ClinVar Disgenet HPO
MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT
619179C5543048MONDO:0030928
LMNB1 Causal
32910914 33033404
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
619180C5543051MONDO:0030929
LMNB2 Causal
33033404
ClinVar Disgenet HPO Orphanet
MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE
619453C5562069MONDO:0030339
RRP7A Causal
33199730
ClinVar Disgenet HPO Orphanet
MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
620047C5774220MONDO:0031060
PDCD6IP Causal
28322231 32286682
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
604804MONDO:0011488
CDK5RAP2 Causal
15793586 20460369 22887808 23587236 25899944 26436113 28004384
ClinVar HPO
MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
620183C5774280MONDO:0859342
BUB1 Causal
35044816
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
604321C1858516MONDO:0011437
KNL1 Causal
22983954 26621532 26626498 27149178 27784895 28454995 31175295 33084842
ClinVar Disgenet GWAS catalog HPO
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
608716MONDO:0012106
ASPM Causal
12355089
ClinVar GWAS catalog HPO
MICROCEPHALY 6 WITH OR WITHOUT SHORT STATURE
MONDO:0700054
CENPJ Unknown — ClinGen
CPAP Unknown
15793586 16900296 19481458 20522431 23166506 25753651 29096039 30214071 30626697 31816041 32549991 34068194
GWAS catalog
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
608393MONDO:0012029
CPAP Causal
12843329 20978018 15793586 16900296 20522431
ClinVar HPO Orphanet
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
612703MONDO:0012989
STIL Causal
19215732
ClinVar GWAS catalog HPO
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
614673C3553414MONDO:0013849OMIM:614673
CEP135 Causal
22521416
CTD ClinVar Disgenet HPO
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
614852C3553886MONDO:0013923OMIM:614852
CEP152 Causal
20598275 21131973
CTD ClinVar Disgenet HPO
MICROCEPHALY AND CHORIORETINOPATHY 1
MONDO:0009624
TUBGCP6 Causal
22279524 25344692
CTD ClinGen ClinVar
PLK4 Unknown
27650967
GWAS catalog
TUBGCP4 Unknown
25817018
GWAS catalog
MICROCEPHALY AND CHORIORETINOPATHY 2
MONDO:0014516
PLK4 Causal
25344692
ClinVar GWAS catalog
MICROCEPHALY AND CHORIORETINOPATHY 3
MONDO:0014592
TUBGCP4 Causal
25817018
ClinVar
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
C3278481251270
KIF11 Unknown — Disgenet
PLK4 Unknown — Disgenet
TUBGCP4 Unknown — Disgenet
TUBGCP6 Unknown — Disgenet HPO
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
616171C4015388
PLK4 Unknown — Disgenet HPO
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
C4225362616335
TP53BP1 Unknown — Disgenet
TUBGCP4 Unknown — Disgenet HPO
MICROCEPHALY AUTOSOMAL DOMINANT
C0220693
DPP6 Unknown — Disgenet
LMNB1 Unknown — Disgenet
MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVE
MESH:C565379C3502492
PLK4 Unknown — CTD
TP53BP1 Unknown — Disgenet
TUBGCP4 Unknown — CTD Disgenet
TUBGCP6 Unknown — CTD
MICROCEPHALY WITH INTELLECTUAL DISABILITY
MONDO:0100200
MCPH1 Unknown
20978018 25870538
ClinGen GWAS catalog
MICROCEPHALY WITH LISSENCEPHALY AND/OR HYDRANENCEPHALY
MONDO:0700116
NDE1 Unknown
11163258 15473967 21529751 21529752 22526350 30637988
CTD ClinGen
MICROCEPHALY WITH MENTAL RETARDATION AND DIGITAL ANOMALIES
MESH:C567101
RBBP8 Unknown — CTD