Primary microcephaly

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY
2514C4755316MONDO:0007988
DPP6 Unknown
23832105
Disgenet Orphanet
LMNB1 Unknown
32910914
Disgenet GWAS catalog Orphanet
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
2512C3711387MONDO:0016660
ASPM Causal
12355089 15355437 15972725 16141009 18452193 19332161 20823249 29643508
ClinGen Disgenet GWAS catalog Orphanet
CIT Causal
27453578
Disgenet GWAS catalog Orphanet
CPAP Causal — Disgenet GenCC Orphanet
MCPH1 Causal — Disgenet GenCC Orphanet
WDR62 Causal — Disgenet GenCC Orphanet
ANGPT2 Unknown — Disgenet
ANKLE2 Unknown
25259927
Disgenet Orphanet
CDK5RAP2 Unknown
15793586 17764569 20460369 22887808 23726037 23995685 27761245
ClinGen Disgenet GWAS catalog Orphanet
CDK6 Unknown
23918663
Disgenet GWAS catalog Orphanet
CENPE Unknown
10893249 12361599 24748105
ClinGen Disgenet GWAS catalog Orphanet
CEP135 Unknown — Disgenet GenCC Orphanet
CEP152 Unknown — Disgenet GenCC Orphanet
CEP63 Unknown — Disgenet GenCC
COPB2 Unknown
29036432
Disgenet GWAS catalog Orphanet
KIF14 Unknown
24128419 28892560 30388224 32430361
Disgenet GWAS catalog Orphanet
KNL1 Unknown — Disgenet GenCC Orphanet
MCM7 Unknown
34059554
Disgenet Orphanet
METTL5 Unknown
31564433
Disgenet GWAS catalog Orphanet
MFSD2A Unknown
26005865 26005868
Disgenet GWAS catalog Orphanet
NCAPD3 Unknown
27737959
CTD Disgenet Orphanet
NUP37 Unknown
30179222
Disgenet Orphanet
PDCD6IP Unknown
32286682
Disgenet Orphanet
PHC1 Unknown — Disgenet GenCC Orphanet
PYCR2 Unknown
27860360
Disgenet Orphanet
SARS1 Unknown
35790048
Disgenet Orphanet
SASS6 Unknown
24951542
CTD Disgenet Orphanet
STIL Unknown
10385121 19215732 22989186 24986681 25218063 25486474 25658757 29230157 30214071 32677750
CTD ClinGen Disgenet Orphanet
TAF13 Unknown
28257693
Disgenet GWAS catalog Orphanet
TEDC1 Unknown — Disgenet GenCC
TRAPPC10 Unknown
35298461
Disgenet Orphanet
TRAPPC14 Unknown
30715179
Disgenet Orphanet
WARS1 Unknown
35790048
Disgenet Orphanet
ZNF335 Unknown — Disgenet